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Functions as a dosage-dependent inducer in mitotic control. Tyrosine protein phosphatase required for progression of the cell cycle. When phosphorylated, highly effective in activating G2 cells into prophase. Directly dephosphorylates CDK1 and activates its kinase activity.

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Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf192 gene product has been provisionally designated C6orf192 pending further characterization.

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KRCC1 is a 259 amino acid protein that is encoded by a gene located on human chromosome 2p11.2. Consisting of 237 million bases, chromosome 2 is the second largest human chromosome and encodes over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstré°‰ syndrome, is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.

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C14orf106 is required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis. It interacts with SP1. There are two isoforms.Chromosome 14 contains about 700 genes and 106 million base pairs and makes up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and when defective leads to the genetic disorder ?-antitrypsin deficiency. This disorder is characterized by severe lung complications and liver dysfunction. Notably, the immunoglobulin heavy chain locus is found on chromosome 14 and has been identified as a fusion with the chromosome 19 encoded protein BCL3 in the (14;19) translocations found in a variety of B cell malignancies. The C14orf106 gene product has been provisionally designated C14orf106 pending further characterization.

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Chromosome 14 contains about 700 genes and 106 million base pairs and makes up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and when defective leads to the genetic disorder ?-antitrypsin deficiency. This disorder is characterized by severe lung complications and liver dysfunction. Notably, the immunoglobulin heavy chain locus is found on chromosome 14 and has been identified as a fusion with the chromosome 19 encoded protein BCL3 in the (14;19) translocations found in a variety of B cell malignancies. The C14orf140 gene product has been provisionally designated C14orf140 pending further characterization.

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C17orf64 is a 562 amino acid protein that is encoded by a gene mapping to human chromosome 17. Chromosome 17 makes up over 2.5% of the human genome with about 81 million bases encoding over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, specifically it is recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes. Chromosome 17 is also linked to neurofibromatosis, a condition characterized by neural and epidermal lesions, and dysregulated Schwann cell growth. Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease are also associated with chromosome 17.

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C18orf1 is a 306 amino acid single-pass membrane protein that contains one LDL-receptor class A domain and belongs to the PMEPA1 family. C18orf1 exists as five alternatively spliced isoforms that display selective expression and are encoded by a gene that maps to human chromosome 18, which houses over 300 protein-coding genes and contains nearly 76 million bases. There are a variety of diseases associated with defects in chromosome 18-localized genes, some of which include Trisomy 18 (also known as Edwards syndrome), Niemann-Pick disease, hereditary hemorrhagic telangiectasia, erythropoietic protoporphyria and follicular lymphomas.

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Plays a role in the incorporation of pigments into hair. May function in membrane fusion and regulate the biogenesis of disk membranes of photoreceptor rod cells (By similarity).

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β-1,4-galactosyltransferases (β-1,4-Gal-T) are type II membrane-bound glycoproteins that are substrate-specific and function to transfer galactose in a β-1,4 linkage to an acceptor sugar. There are seven members of the β-1,4-Gal-T family, all of which are directed to the golgi apparatus through a hydrophobic sequence at the N-terminus. β-1,4-Gal-T7, also known as B4GALT7 or XGALT1, is a 327 amino acid single-pass type II membrane protein that is expressed at high levels in heart, pancreas and liver. β-1,4-Gal-T7 uses manganese to catalyze the UDP-dependent biosynthesis of glycosphingolipids. The gene encoding β-1,4-Gal-T7 is mutated in Ehlers-Danlos syndrome progeroid type (EDSP), a variant form of Ehlers-Danlos syndrome characterized by progeroid facies, mild mental retardation, short stature, skin hyperextensibility, moderate skin fragility, joint hypermobility principally in digits.β-1,4-galactosyltransferases (β-1,4-Gal-T) are type II membrane-bound glycoproteins that are substrate-specific and function to transfer galactose in a ∫-1,4 linkage to an acceptor sugar. There are seven members of the β-1,4-Gal-T family, all of which are directed to the golgi apparatus through a hydrophobic sequence at the N-terminus. β-1,4-Gal-T7, also known as B4GALT7 or XGALT1, is a 327 amino acid single-pass type II membrane protein that is expressed at high levels in heart, pancreas and liver. β-1,4-Gal-T7 uses manganese to catalyze the UDP-dependent biosynthesis of glycosphingolipids. The gene encoding β-1,4-Gal-T7 is mutated in Ehlers-Danlos syndrome progeroid type (EDSP), a variant form of Ehlers-Danlos syndrome characterized by progeroid facies, mild mental retardation, short stature, skin hyperextensibility, moderate skin fragility, joint hypermobility principally in digits.-1,4-galactosyltransferases (β-1,4-Gal-T) are type II membrane-bound glycoproteins that are substrate-specific and function to transfer galactose in a ∫-1,4 linkage to an acceptor sugar.

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C10orf27, also known as spatial, is a 351 amino acid cytoplasmic protein belonging to the spatial family. C10orf27 is suggested to play a role in spermatid differentiation. Existing as two alternatively spliced isoforms, C10orf27 is widely expressed in multiple tissues, including brain, thymus and testis. C10orf27 may be associated with multiple sclerosis (MS) susceptibility and pathogenesis. MS is an inflammatory disease that causes gradual destruction of myelin in the central nervous system. C10orf27 is encoded by a gene located on human chromosome 10, which contains over 800 genes and 135 million nucleotides, making up nearly 4.5% of the human genome. PTEN is an important tumor suppressor gene located on chromosome 10 and, when defective, causes a genetic predisposition to cancer development known as Cowden syndrome.

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The human augmin complex (HAUS) is an evolutionarily conserved 8-subunit protein complex that was initially discovered in Drosophila. The HAUS complex is essential for microtubule generation, centrosome integrity, mitotic spindle assembly and completion of cytokinesis. HAUS6 (HAUS augmin-like complex, subunit 6), also known as FAM29A or Dgt6, is a 955 amino acid component of the augmin complex. Required for mitotic progression, HAUS6 localizes to cytoplasm, cytoskeleton, mitotic spindle microtubules and interphase centrosomes, and undergoes post-translational phosphorylation following mitosis on multiple serine and threonine residues. HAUS6 exists as two alternatively spliced isoforms that are encoded by a gene located on human chromosome 9.

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UFD1L is a member of the UFD1 family of proteins and is a component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. This complex, also containing UFD1L, VCP and NPLOC4, binds ubiquitinated proteins and is required for the export of misfolded proteins from the ER to the cytoplasm for disposal. The NPLOC4-UFD1L-VCP complex also regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. UFD1L gene hemizygosity is the cause of some developmental defects including DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS) and Opitz G/BBB syndrome. UFD1L has 2 named isoforms produced by alternative splicing.

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Zwilch is the human homolog of the Drosophila Zwilch protein. The Drosophila Zwilch forms a complex with both ROD Rough Deal) and ZWINT (Zeste-White 10, also designated ZW10) proteins. This complex is important for chromosome segregation because it recruits cytoplasmic Dynein to the kinetochore and plays a crucial role in the spindle checkpoint. The role of Zwilch in complex is thought to be evolutionarily conserved because the human homologs of Zwilch, ZWINT and ROD coimmunoprecipitate in a human cell line called HeLa. The human Zwilch, ZWINT and ROD complex localizes to the kinetochores at prometaphase. Mutations were discovered in Zwilch, ZWINT and ROD during a screen for mutations in alleles encoding putative chromosome instability genes in cases of human colorectal cancer. These mutations may contribute in part to the chromosomal instability phenotype of colorectal tumor cells.

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Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes can lead to severe genetic diseases, such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD13B (ankyrin repeat domain 13B) is a 626 amino acid protein that contains two ANK repeats and three ubiquitin-interacting motif (UIM) repeats. Conserved in dog, cow, mouse and rat, ANKRD13B exists as two alternatively spliced isoforms. The gene that encodes ANKRD13B maps to human chromosome 17, which makes up over 2.5% of the human genome, with about 81 million bases encoding over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. BRCA1 is recognized as a genetic determinant of early onset breast cancer. Chromosome 17 is also linked to neurofibromatosis, dysregulated Schwann cell growth, Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease.

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Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKLE2 (ankyrin repeat and LEM domain containing 2), also known as LEMD7, is a 938 amino acid single-pass membrane protein containing an ANK repeat and a LEM domain. Exsiting as two isoforms produced by alternative splicing events, the gene encoding ANKLE2 maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders.

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Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses.

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The sense of taste is essential for the survival of organisms. For example, the ability to identify sweet-tasting foods enables animals to seek out food with high nutritive value, whereas the ability to identify bitter substances enables them to avoid the ingestion of potentially harmful substances. A family of integral membrane proteins are involved in taste perception and include T1R, which is involved in sweet taste perception and T2R, which is involved in bitter taste perception. Both types of taste receptors couple to various G proteins to initiate signal transduction cascades. Specifically, T2R38 is expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells. Variations in T2R38 are associated with the ability to taste the bitter chemical phenylthiocarbamide (PTC), also called thiourea tasting.

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The activation of RaP1 by cAMP is independent of PKA and is mediated by recently discovered family of guanine nucleotide exchange factors (GEFs) called cAMP-GEFs or Epacs. The Epac signaling therefore represents a novel mechanism for cAMP signaling with in the cAMP cascade. There are 2 members of the Epac family, Epac1 and Epac 2. Both proteins are multidomain proteins containing an autoinhibitory cAMP-binding domain that inhibits the catalytic region and a DEP domain (dishevelled, Egl-10 and pleckstrin homology domain) targeting the membrane anchors. EPAC2 has an additional cAMP-binding site in its N-terminus that binds cAMP with low affinity. EPAC1 mRNA is broadly expressed, with particularly high levels occurring in the thyroid, ovary, kidney and certain brain regions, whereas expression of EPAC2 mRNA appears to be restricted to the brain and adrenal glands. Epac 1 and Epac 2 also interact with light chain 2 (LC2) or MAP1A that serves as a scaffolding structure to stabilize the signal transduction complex. The Epac 1-selective were generated against unique antigenic sequences form near N-terminus and between RasGEFN and Ras GEF domains. The to Epac 1are affinity purified over immobilized antigen based chromatography.

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STOML2 is a 356 amino acid member of the mec-2 family of proteins. Expressed ubiquitously at low levels, STOML2 is highly expressed in heart, liver and pancreas. STOML2 is localized to the cytoplasm with some distribution on the membrane. STOML2 was first identified as an overexpressed protein in human endometrial adenocarcinoma. Changes in cell growth in samples with different levels of STOML2 indicate that STOML2 could play a role in endometrial tumorigenesis. STOML2 is also thought to play a role in regulating ion channel conductances or the organization of sphingolipid and cholesterol-rich lipid rafts.

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STOML2 is a 356 amino acid member of the mec-2 family of proteins. Expressed ubiquitously at low levels, STOML2 is highly expressed in heart, liver and pancreas. STOML2 is localized to the cytoplasm with some distribution on the membrane. STOML2 was first identified as an overexpressed protein in human endometrial adenocarcinoma. Changes in cell growth in samples with different levels of STOML2 indicate that STOML2 could play a role in endometrial tumorigenesis. STOML2 is also thought to play a role in regulating ion channel conductances or the organization of sphingolipid and cholesterol-rich lipid rafts.

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Defects in SAMD9 are the cause of normophosphatemic familial tumoral calcinosis (NFTC). NFTC is an uncommon life-threatening disorder characterized by massive periarticular, and seldom visceral, deposition of calcified tumors.

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Negative regulator of MYD88- and TRIF-dependent toll-like receptor signaling pathway which plays a pivotal role in activating axonal degeneration following injury. Promotes Wallerian degeneration an injury-induced axonal death pathway which involves degeneration of an axon distal to the injury site. Can activate neuronal death in response to stress. Regulates dendritic arborization through the MAPK4-JNK pathway. Involved in innate immune response. Inhibits both TICAM1/TRIF- and MYD88-dependent activation of JUN/AP-1, TRIF-dependent activation of NF-kappa-B and IRF3, and the phosphorylation of MAPK14/p38.

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The BTB domain, also known as the POZ (poxvirus and zinc finger) domain, is an N-terminal homodimerization domain that contains multiple copies of kelch repeats and/or C2H2-type zinc fingers. Proteins that contain BTB domains are thought to be involved in transcriptional regulation via control of chromatin structure and function. RCBTB1 (regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1), also known as GLP, CLLD7, CLLL7 or E4.5, is a 531 amino acid protein that localizes to the nucleus and contains two BTB (POZ) domains and six RCC1 repeats. Expressed ubiquitously, RCBTB1 is thought to be involved in cell cycle regulation, specifically via chromatin remodeling. The gene encoding RCBTB1 maps to a region on human chromosome 13 that is frequently deleted in B-cell chronic lymphocytic leukemia, suggesting a possible role for RCBTB1 in tumor suppression.

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IQCG is a 443 amino acid protein containing one IQ domain. Widely distributed in nature, the IQ domain forms an amphiphilic seven-turn α-helix capable of binding calmodulin in a Ca2+-independent manner. The level of intracellular calcium is tightly regulated in all eukaryotic cells. A modest increase in this level can result in a myriad of physiological responses, most of which are mediated by calmodulin (CaM), the universal calcium sensor. In acute T-lymphoid/myeloid leukemia, IQCG forms a complex with Nup98, an O-linked glycoprotein and a component of the nuclear pore complex. NUP98-IQCG complex bind co-activators and/or co-repressors, which suggest a role in transcriptional regulation.Nup98-IQCG complex inhibits 32Dcl3 cell apoptosis induced by Arabinofuranosylcytosine (Ara-C) and partially blocks granulocyte differentiation induced by G-CSF. IQCG exists as two isoforms due to alternatively splicing events.

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IQCF1 is an 81 amino acid protein encoded by the IQCF1 gene, which maps to human chromosome 3. Chromosome 3 is made up of about 214 million bases encoding over 1,100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3.

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The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009].

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PDZK7, also known as PDZD7, is a 517 amino acid protein that contains two PDZ (DHR) domains. Encoded by a gene that maps to human chromosome 10q24.31, PDZK7 is conserved in dog, mouse and rat, and exists as three alternatively spliced isoforms. PDZK7 is known to interact with Harmonin, MASS1, USH1G and Usherin. Localizing to nucleus, PDZK7 is expressed in retinal pigment epithelium and inner ear. Biallelic inactivation of PDZK7 can cause non-syndromic hearing impairment and chromosomal aberrations, which are linked to non-syndromic sensorineural deafness. PDZK7 mutations are also linked to Usher syndrome, which is characterized by retinitis pigmentosa and sensorineural deafness, and Alzheimer disease. The gene that encodes PDZK7 maps to human chromosome 10q24.31.

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Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer, suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6.

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Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization. While it is activated by increase in intracellular Ca(2+), it is impermeable to it. Mediates transport of monovalent cations (Na(+) >K(+) >Cs(+) >Li(+)), leading to depolarize the membrane. It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells, kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating Ca(2+) oscillations after T lymphocyte activation, which is required for NFAT-dependent IL2 production. Involved in myogenic constriction of cerebral arteries. Controls insulin secretion in pancreatic beta-cells. May also be involved in pacemaking or could cause irregular electrical activity under conditions of Ca(2+) overload. Affects T-helper 1 (Th1) and T-helper 2 (Th2) cell motility and cytokine production through differential regulation of calcium signaling and NFATC1 localization. Enhances cell proliferation through up-regulation of the beta-catenin signaling pathway.Involvement in disease:Defects in TRPM4 are the cause of progressive familial heart block type 1B (PFHB1B) [MIM:604559]. It is a cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.

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Teneurin-3, also known as Ten-3, TNM3 or ODZ3, is a 2,699 amino acid single-pass type II membrane protein that contains 25 YD repeats, 8 EGF-like domains, 5 NHL repeats and one teneurin N-terminal domain. Localized to the membrane and expressed in brain, testis and ovary, Teneurin-3 exists as a disulfide-liked homodimer that is thought to function as a cellular signal transducer. Additionally, Teneurin-3 may participate in eye-specific patterning in the visual pathway and is required for aligned binocular vision. The gene encoding Teneurin-3 maps to chromosome 4. Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes, one of which is the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.