54835 Results for: "Ruthenium(III)+chloride+oxide&pageNo=48"

Supplier: Bioss

Chromosome 9 consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias. The C9orf68 gene product has been provisionally designated C9orf68 pending further characterisation. There are two isoforms of C9orf68 that are produced as a result of alternative splicing events.

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Activates transcription of CYP11A1. Interaction with CREBBP and EP300 results in a synergistic transcriptional activation of CYP11A1.Tissue specificity:Highest expression was seen in thymus, testis and adrenal cortex, expressed also in the adrenal medulla, thyroid, and stomach. Highly expressed in steroidogenic JEG-3 and MCF-7 cells, low expression was seen in non-steroidogenic HepG2 and HK293 cells.

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Neurexophilin family (Neurexophilin-1-4) of neuropeptide-like glycoproteins that are proteolytically processed after synthesis. Neurexophilin-1-3 are secreted proteins that are thought to function as signaling molecules which specifically bind to target proteins, such as neurexin I?(a protein that promotes adhesion between dendrites and axons), and are essential for proper neurotransmitter release. While Neurexophilin-1 is located primarily in spleen tissue, Neurexophilin-2 is expressed primarily in kidney and both Neurexophilin-2 and Neurexophilin-3 are highly expressed in brain. Defects in the gene encoding Neurexophilin-1 may be associated with schizophrenia, a mental disorder characterized by an abnormal perception of reality.

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Making up nearly 6% of the human genome, chromosome 6 contains around 1200 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 C6orf163 gene product has been provisionally designated C6orf163 pending further characterisation.

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As a subfamily of the cadherin superfamily, protocadherins are cadherin-like cell adhesion proteins that contain up to seven extracellular domains and are predominantly expressed in the nervous system. Importantly, the adhesion mechanism of protocadherins is distinct from classic cadherins. Through inactivation or overexpression, several protocadherins have been implicated in a variety of cancers. Protocadherin-20 (PCDH20), also known as protocadherin-13, is a 924 amino acid protein containing 6 cadherin domains and potentially functioning as a calcium-dependent cell-adhesion protein. In non-small cell lung cancer cell lines, a homozygous loss of PCDH20 was identified through either deletion of one allele and methylation of the other or methylation of both alleles. Hypermethylation of PCDH20 is associated with worse prognosis and clinical outcome, suggesting that PCDH20 may function as a tumor suppressor.

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This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012].

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1200 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 C6orf70 gene product has been provisionally designated C6orf70 pending further characterisation.

Supplier: Bioss

This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant, and recessive forms of nephrogenic diabetes insipidus.

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C9orf98.

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SSEA-4 (Stage-specific embryonic antigen 4) is a glycoprotein expressed early in embryonic development and in pluripotent stem cells. SSEA-4 can be used as a marker of Human Embryonic Stem Cells, Human Embryonic Carcinoma Cells and Human Embryonic Germ Cells. Monoclonal antibodies to this target have been widely used in the characterization of pluripotent stem cells. Mouse pluripotent stem cells are not recognised by anti-SSEA-4 antibodies but do express the antigen upon differentiation. 

Supplier: Bioss

May play a role in innate immunity in mouth, nose and lungs. Binds bacterial lipopolysaccharide (LPS) and modulates the cellular responses to LPS.

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This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains. [provided by RefSeq, Jul 2008].

Supplier: Bioss

Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3-kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback loops in autophagy: acts both as a downstream effector and negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR. Activated via phosphorylation by AMPK and also acts as a regulator of AMPK by mediating phosphorylation of AMPK subunits PRKAA1, PRKAB2 and PRKAG1, leading to negatively regulate AMPK activity. May phosphorylate ATG13/KIAA0652 and RPTOR; however such data need additional evidences. Plays a role early in neuronal differentiation and is required for granule cell axon formation.

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Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine. Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4. Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1200 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 C6orf154 gene product has been provisionally designated C6orf154 pending further characterisation.

Supplier: Bioss

Contributes to degradation of proteins cross-linked by transglutaminases. Degrades the cross-link between a lysine and a glutamic acid residue from two proteins that have been cross-linked by transglutaminases. Catalyzes the formation of 5-oxoproline from L-gamma-glutamyl-L-epsilon-lysine. Inactive with L-gamma-glutamyl-alpha-amino acid substrates such as L-gamma-glutamyl-L-alpha-cysteine and L-gamma-glutamyl-L-alpha-alanine.

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Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins, respectively. Specifically binds to the immunoglobulin kappa-type J segment recombination signal sequence. Binds specifically to methylated DNA.

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ALKB protects DNA and RNA against damage from methylating compounds from the environment by directly reversing 1-methyladenine (1-meA) and 3-methylcytosine (3-meC) cytotoxic alkylation lesions in DNA and RNA. The enzymes act by oxidative demethylation, utilizing ferrous iron and alpha-ketoglutarate as cofactors, 2-oxoglutarate as a co-substrate, and molecular oxygen as the oxidizing agent. Deficiencies in DNA and RNA repair in mammals are associated with cancer, neurological disease and developmental defects. ALKB plays a role in resistance to anti-cancer drugs which attempt to damage tumor DNA. Escherichia coli ALKB protein belongs to the superfamily of 2-oxoglutarate- and iron(II)-dependent oxygenases.

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This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The protein's biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. Mutations in this gene have been associated with postmenopausal osteoporosis.

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DEPDC1

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Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf26 gene product has been provisionally designated C20orf26 pending further characterization.

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The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009].

Supplier: Bioss

TorsinB is a 336 amino acid protein that localizes to the lumen of endoplasmic reticulum and belongs to the Torsin family. Expressed in a variety of tissues with particularly high levels in adult brain, TorsinB is thought to function as a molecular chaperone that assists in the conformational folding of membrane and secreted proteins. Via its ability to regulate protein folding, TorsinB plays a key role in postnatal developmental events and is essential for proper neurological development. TorsinB contains two PKC (protein kinase C) phosphorylations sites, one ATP binding domain and several conserved cysteines and shares 69% amino acid identity with TorsinA, a related family member. Defects in the gene encoding TorsinB are associated with torsion dystonia, an autosomal dominant neurological disorder that is characterized by debilitating muscle contractions throughout the body.

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Growth factor active in angiogenesis, and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in angiogenesis of the venous and lymphatic vascular systems during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates VEGFR-2 (KDR/FLK1) and VEGFR-3 (FLT4) receptors.

Supplier: Bioss

Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4).

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Probable E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage.

Supplier: Bioss

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 C6orf62 gene product has been provisionally designated C6orf62 pending further characterization.

Supplier: Bioss

Voltage-gated K+ channels in the plasma membrane control the repolarization and the frequency of action potentials in neurons, muscles, and other excitable cells. The KV gene family encodes more than 30 genes that comprise the subunits of the K+ channels, and they vary in their gating and permeation properties, subcellular distribution, and expression patterns. Functional KV channels assemble as tetramers consisting of pore-forming alpha-subunits (KV alpha), which include the KV1, KV2, KV3, and KV4 proteins, and accessory or KV beta subunits that modify the gating properties of the coexpressed KV alpha subunits. Differences exist in the patterns of trafficking, biosynthetic processing and surface expression of the major KV1 subunits (KV1.1, KV1.2, KV1.4, KV1.5 and KV1.6) expressed in rat and human brain, suggesting that the individual protein subunits are highly regulated to control for the assembly and formation of functional neuronal channels.

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Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression. Directly dephosphorylates CDK1 and stimulates its kinase activity. Also dephosphorylates CDK2 in complex with cyclin E, in vitro.

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GCF (GC-rich sequence DNA-binding factor), also known as C2orf3 (chromosome 2 open reading frame 3), transcription factor 9 (TCF-9) or DNABF, is a 781 amino acid nuclear protein that belongs to the GCF family. Widely expressed, GCF binds the GC-rich sequences of _-Actin, EGFR and calcium-dependent protease (CANP) promoters. GCF contains multiple phosphoserine and phosphothreonine residues, and two GCF isoforms are produced due to alternative splicing events. GCF is considered a candidate for susceptibility to dyslexia (DYX3) as both genes reside in close proximity on human chromosome 2. Chromosome 2 is the second largest human chromosome and consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome.