54781 Wyniki dla: „2-Chloroquinoline-5-carboxylic+acid&pageNo=48”

Supplier: Bioss

Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the 'Ser-259' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes.Involvement in disease:Defects in SHOC2 are the cause of Noonan syndrome-like with loose anagen hair (NSLAH) . NSLAH children display macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck and pectus anomalies. Affected subjects also have easily pluckable, sparse, thin and slow-growing hair.

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Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterised by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf29 gene product has been provisionally designated C7orf29 pending further characterisation.

Supplier: Bioss

Tuberin, or TSC2 (Tuberous sclerosis complex), is implicated as a tumor suppressor. It may function in vesicular transport, and may also play a role in the regulation of cell growth arrest and in the regulation of transcription mediated by steroid receptors. Interaction between hamartin (TSC1) and tuberin may facilitate vesicular docking. It specifically stimulates the intrinsic GTPase activity of the Ras related protein RAP1A and RAB5, suggesting a possible mechanism for its role in regulating cellular growth. Mutations in tuberin lead to constitutive activation of RAP1A in tumors. At least three isoforms of Tuberin exist.

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LGI4, also known as leucine-rich glioma-inactivated protein 4, is a 537 amino acid secreted glycosylated protein that is widely expressed, with highest levels found within the nervous system. Interestingly, siRNA knockdown studies of LGI4 expression in Schwann cells have been shown to result in the inhibition of myelination, thus suggesting that LGI4 is an essential component of myelin formation and axon segregation. LGI4 shares significant homology with its other family members, LGI1, LGI2 and LGI3. Significantly, mutations in the gene encoding LGI1 have been linked to human temporal lobe epilepsy and, given the sequence similarity of LGI4, it is likely that it also may be implicated in the pathology of seizures. LGI4 is localized subcellularly to the Golgi, ER and vesicles. There are two isoforms of LGI4 that are produced as a result of alternative splicing events.

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Chloride channels (CLCs) regulate cellular traffic of chloride ions, a critical component of all living cells. CLCs are involved in membrane potential stabilization, signal transduction, cell volume regulation and organic solute transport. The putative 247 amino acid protein chloride intracellular channel 2 (CLIC2), also designated XAP121, shares 60% identity with the CLIC1 protein and demonstrates expression in only fetal liver and adult skeletal muscle tissues. The CLIC2 gene maps to chromosome Xq28 and contains 6 exons. Because a direct association exists between a number of human chloride channel genes and a range of hereditary diseases, CLIC2 is a potential candidate for one of the many diseases linked to Xq28. The hereditary form of incontinentia pigmenti (IP2), for example, is a rare disorder characterized by abnormalities of the tissues and organs derived from the ectoderm and neuroectoderm that has been linked to Xq28

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Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterised by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf34 gene product has been provisionally designated C7orf34 pending further characterisation.

Supplier: Bioss

This gene is a member of a gene family that encodes enzymes involved in both the metabolism of glutathione and in the transpeptidation of amino acids. Changes in the activity of gamma-glutamyltransferase may signal preneoplastic or toxic conditions in the liver or kidney. The protein encoded by this gene consists of a heavy and a light chain, and it can interact with CT120, a plasma membrane-associated protein that is possibly involved in lung carcinogenesis. [provided by RefSeq, Jul 2008].

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CPXM (carboxypeptidase X, member 1) belongs to the peptidase M14 family. However, no carboxypeptidase activity has yet been detected. It may be involved in cell-cell interactions.Members of the M14 metallocarboxypeptidase protein family serve many diverse functions and are divided into three subfamilies based on structure, function and amino acid sequence similarity. Belonging to the N/E subfamily, CPXM (metallocarboxypeptidase CPX-1) is a 734 amino acid protein that contains a F5/8 type C domain and likely binds one zinc ion per subunit. Most members of the N/E subfamily contain several domains, including an active carboxypeptidase domain and signal peptide, and are thought to function mostly in protein-protein interactions and/or protein-membrane interactions, thereby targeting the protein to specific locations within the secretory pathway. CPXM is a unique member of this subfamily in that it does not appear to exhibit any enzymatic activity due to lack of several active-site residues that are present in the catalytic domain of other members of the N/E subfamily. Studies showing that CPXM expression is regulated during osteoclastogenesis suggest that CPXM may play a role in osteoclast differentiation. There are two isoforms of CPXM which are a result of alternative splicing events.

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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 C9orf6 gene product has been provisionally designated C9orf6 pending further characterisation.

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Members of the C1q superfamily have diverse functions that are related to cell adhesion and basement membrane components. CTRP5 (Complement C1q tumor necrosis factor-related protein 5) is a 243 amino acid secreted and membrane-associated protein that contains a collagen-like domain and a C1q domain. CTRP5 is a short-chain collagen that is expressed in retinal pigment epithelium as well as brain, lung, liver and placenta. By forming an extracellular hexagonal lattice, CTRP5 facilitates the adhesion of basal retinal pigment epithelium to Bruch’s membrane, the innermost layer of the choroid. A mutation within the C1q domain of CTRP5 results in abnormal high molecular weight aggregate formation, which alters its structure and interactions. This mutation may result in the presentation of late-onset retinal degeneration (LORD), an autosomal dominant disorder that is characterized by punctate yellow-white deposits in the retinal fundus and night blindness.

Supplier: Bioss

Members of the suppressor of cytokine signaling (SOCS) family of proteins contain C-terminal regions of homology called the SOCS box, which serves to couple SOCS proteins and their binding partners with the Elongin B and C complex. Several other families of proteins also contain SOCS boxes, but differ from the SOCS proteins in the type of domain they contain upstream of the SOCS box. The largest family of SOCS box-containing proteins is the ankyrin repeat and SOCS box-containing (ASB) protein family. Members of the ASB family include ASB-1 through ASB-18 and are involved in a variety of biological processes. ASB-17 is a 295 amino acid member of this family. ASB-17 contains one ankyrin repeat and one SOCS box domain. ASB-17 is thought to be a substrate-recognition subunit of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin protein ligase complex. This complex mediates the ubiquitination of target proteins and their subsequent proteasomal degradation.

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Ferrochelatase catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway, and is localised in the mitochondrion. Defects in ferrochelatase are associated with protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). They are broadly classified as hepatic porphyrias or erythropoietic porphyrias, based on the site of the overproduction and mainly accumulation of the porphyrins (or their chemical precursors). They manifest with either skin problems, or neurological complications, or occasionally both.

Supplier: Bioss

C6orf226.

Supplier: Bioss

Increase in fetal surfactant synthesis and lung maturity is caused by the glucocorticoidal induction of enzymes required for phosphatidylcholine synthesis towards the end of gestation (1). The regulation of gestational age-dependent induction of phosphatidylcholine synthesis by glucocorticoids is still unclear (1). The rate-controlling enzyme in the phosphatidylcholine biosynthetic pathway is CTP-phosphocholine cytidylyltransferase A (CCT A) (2–4). In cultured eukaryotic cells, this enzyme is essential for survival (3). The alpha isoform is located in the nucleus and is regulated by reversible phosphorylation and membrane association (3). There is significant identity between the alpha-helical membrane-binding domains of CCT A and soybean oleosin (2). Expressed CCT A has lipid-dependent cytidylyltransferase activity (5). The gene which encodes CCT A maps to human chromosome 3q (4).

Supplier: Bioss

Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription.

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This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This receptor plays a crucial role in regulating the heartbeat.

Supplier: Bioss

Important in metal transport, in particular iron. Can also transport manganese, cobalt, cadmium, nickel, vanadium and lead. Involved in apical iron uptake into duodenal enterocytes. Involved in iron transport from acidified endosomes into the cytoplasm of erythroid precursor cells. May play an important role in hepatic iron accumulation and tissue iron distribution. May serve to import iron into the mitochondria.

Supplier: Bioss

Negative regulator in the hedgehog signaling pathway. Down-regulates GLI1-mediated transactivation of target genes. Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein. Negative regulator of beta-catenin signaling. Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full length form of GLI3 (GLI3FL). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state. Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R. When Hh signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A). Required for the proper formation of hair follicles and the control of epidermal differentiation (By similarity).

Supplier: Bioss

The protein encoded by this gene is an antigen that is overexpressed in many cancers but that is also expressed in normal testis. This gene is found in a duplicated region of the X-chromosome and therefore has a neighboring gene of identical sequence. [provided by RefSeq, Jan 2012]

Supplier: Bioss

C9orf61.

Supplier: Bioss

Transcription factor essential for hepatocyte growth, the differentiation of plasma cells, the immunoglobulin secretion, and the unfolded protein response (UPR). Acts during endoplasmic reticulum stress (ER) by activating unfolded protein response (UPR) target genes via direct binding to the UPR element (UPRE). Binds DNA preferably to the CRE-like element 5'-GATGACGTG[TG]N(3)[AT]T-3', and also to some TPA response elements (TRE). Binds to the HLA DR-alpha promoter. Binds to the Tax-responsive element (TRE) of HTLV-I.

Supplier: Bioss

This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008].

Supplier: Bioss

Members of the WD repeat protein family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis and gene regulation. BRWD3 (bromodomain and WD repeat-containing protein 3) is a 1,802 amino acid protein expressed in fetal liver and most adult tissues. Existing as five alternatively spliced isoforms, BRWD3 contains two bromo domains, nine WD repeats and is thought to play a role in transcription by modifying chromatin. Mutations in the gene encoding BRWD3 are the cause of mental retardation X-linked type 93 (MRX93), which is also known as mental retardation X-linked with macrocephaly (XLMR). MRX93 is characterized by mild intellectual disability, macrocephaly, a prominent forehead and large cupped ears.

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The endophilins comprise a family of three SH3 domain-containing proteins designated Endophilin I, II and III, or alternatively known as SH3P4, SH3P8 and SH3P13, respectively. These proteins associate with Amphiphysin, Synaptojanin and Dynamin and are implicated in presynaptic vesicle trafficking at nerve terminals. The expression patterns of the endophilins are consistent with their cellular functions at the neuronal synapse, as Endophilin I is ex- pressed only in the brain. Both Endophilin II and Endophilin III are detected in a variety of tissues. Endophilin I is also implicated in modulating G protein-coupled receptor signaling by functioning as an adapter protein and directing 1 adrenergic receptors to the endocytic machinery.

Supplier: Bioss

Corrects defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents.

Supplier: Bioss

DDX3 is involved in RNA metabolism. Two DDX3 paralogs are found in humans; DDX3X is encoded by a gene found on the X chromosome while DDX3Y is encoded by a gene on the Y chromosome. DDX3Y is exclusively expressed in testis and is required for normal spermatogenesis. DDX3X is ubiquitously expressed and predominantly localizes to the nuclear speckles, participating in RNA splicing, transcription, translation initiation, mRNA transport and cell cycle regulation. DDX3X also partakes in HIV-1 replication and hepatitis C viral infections.

Supplier: Bioss

GTP-binding protein involved in nucleocytoplasmic transport. Required for the import of protein into the nucleus and also for RNA export. Involved in chromatin condensation and control of cell cycle (By similarity). The complex with BIRC5/ survivin plays a role in mitotic spindle formation by serving as a physical scaffold to help deliver the RAN effector molecule TPX2 to microtubules.

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Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression. Required for G2/M phases of the cell cycle progression and abscission during cytokinesis in a ECT2-dependent manner. Directly dephosphorylates CDK1 and stimulates its kinase activity. The three isoforms seem to have a different level of activity.

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Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes.

Supplier: Bioss

Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.