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Description:
The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. 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.
Description:
The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. 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.
Description:
Encoding over 300 genes, chromosome 18 contains about 76 million bases. Trisomy 18, or Edwards syndrome, is the second most common trisomy after Downs syndrome. Symptoms of Edwards syndrome include low birth weight, a variety of physical development defects, heart deformations and breathing difficulty. Translocation between chromosome 18 and 14 is the most common translocation in cancers, and occurs in follicular lymphomas. Niemann-Pick disease, hereditary hemorrhagic telangiectasia and erythropoietic protoporphyria are associated with chromosome 18. The TGFβ modulators, Smad2, Smad4 and Smad7 are encoded by chromosome 18. The C18orf54 gene product has been provisionally designated C18orf54 pending further characterization.
Description:
The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors.
Description:
The members of the G-protein-coupled receptor family are distinguished by their slow transmitting response to ligand binding. These seven transmembrane proteins include the adrenergic, serotonin and dopamine receptors. The effect of the signaling molecule can be excitatory or inhibitory depending on the type of receptor to which it binds. b-adrenergic bound to adrenaline activates adenylyl cyclase, while a2-adrenergic receptor bound to adrenaline inhibits adenylyl cyclase. Like the a2-adrenergic receptor, serotonin receptor functions are also mediated by G proteins that inhibit the activity of adenylyl cyclase. The serotonin receptors have been classified into several categories, designated SR-1–7 (5HT1–7). Subtypes within the SR-1 group include SR-1A, -1B, -1D, -1E and -1F.
Description:
Transcriptional repressor. Binds specifically to the DNA sequence 5'-GACTNGACT-3'. Has tumor suppressor activity. May play a role in control of cell proliferation and/or neural cell development. Regulates proliferation of early T progenitor cells by maintaining expression of HES1. Also plays a role in antero-posterior specification of the axial skeleton and negative regulation of the self-renewal activity of hematopoietic stem cells. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Is not functionally redundant with BMI1; unlike BMI1 does not stimulate the E3 ubiquitin-protein ligase activity in a reconstituted PRC1-like complex (By similarity).
Description:
IQCJ (IQ domain-containing protein J) is a 159 amino acid protein that contains one IQ domain. Existing as four alternatively spliced isoforms, the gene encoding IQCJ maps to human chromosome 3q25.32. Chromosome 3 houses over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Key tumor suppressing genes on chromosome 3 include those that encode the apoptosis mediator RASSF1, the cell migration regulator HYAL1 and the 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.
Description:
CHPT1, also known as AAPT1-like protein and Diacylglycerol cholinephosphotransferase 1, is a 406 amino acid multi-pass membrane protein that is localized to the golgi apparatus. By catalyzing the phosphatidylcholine biosynthesis from CDP-choline, it plays an essential role in the formation and maintenance of vesicular membranes. CHPT1 is most abundant in testis, as well as small intestine, heart, colon, spleen and prostate. Expression of CHPT1 is increased in cancerous breast cells as compared to normal breast cell lines and it has been determined that the CHPT1 gene exhibits mutations within the cancerous cells. Interestingly, exposure to mustard gas significantly decreases CHPT1 gene expression and activity, an event that may play an important role in the development of acute respiratory distress syndrome (ARDS). There are two isoforms of CHPT1 that are produced as a result of alternative splicing events.
Description:
CHPT1, also known as AAPT1-like protein and Diacylglycerol cholinephosphotransferase 1, is a 406 amino acid multi-pass membrane protein that is localized to the golgi apparatus. By catalyzing the phosphatidylcholine biosynthesis from CDP-choline, it plays an essential role in the formation and maintenance of vesicular membranes. CHPT1 is most abundant in testis, as well as small intestine, heart, colon, spleen and prostate. Expression of CHPT1 is increased in cancerous breast cells as compared to normal breast cell lines and it has been determined that the CHPT1 gene exhibits mutations within the cancerous cells. Interestingly, exposure to mustard gas significantly decreases CHPT1 gene expression and activity, an event that may play an important role in the development of acute respiratory distress syndrome (ARDS). There are two isoforms of CHPT1 that are produced as a result of alternative splicing events.
Description:
Cyclin dependent kinase 5 (Cdk5) is a key regulator of cell cycle progression in neuronal differentiation that physically associates with and is activated by the neuron-specific protein p35. CDK5RAP1 (CDK5 regulatory subunit-associated protein 1) specifically inhibits Cdk5 activation by p35 through formation of a dimer that inhibits kinase activity. CDK5RAP2, also known as Centrosome-associated protein 215, is a 1893 amino acid centrosomal protein that regulates activity of CDK5 through complex formation with CDK5RAP1. Expressed in placenta, liver, pancreas, heart, skeletal muscle, lung, brain and kidney, CDK5RAP2 associates with centrosomes throughout the cell cycle. Mutations in the gene encoding CDK5RAP2 results in primary microencephaly autosomal recessive type 3, which is characterized by markedly reduced head size, brain weight and significant neurological deficits. There are four isoforms of CDK5RAP2 that are produced as a result of alternative splicing events.
Description:
Cyclin dependent kinase 5 (Cdk5) is a key regulator of cell cycle progression in neuronal differentiation that physically associates with and is activated by the neuron-specific protein p35. CDK5RAP1 (CDK5 regulatory subunit-associated protein 1) specifically inhibits Cdk5 activation by p35 through formation of a dimer that inhibits kinase activity. CDK5RAP2, also known as Centrosome-associated protein 215, is a 1893 amino acid centrosomal protein that regulates activity of CDK5 through complex formation with CDK5RAP1. Expressed in placenta, liver, pancreas, heart, skeletal muscle, lung, brain and kidney, CDK5RAP2 associates with centrosomes throughout the cell cycle. Mutations in the gene encoding CDK5RAP2 results in primary microencephaly autosomal recessive type 3, which is characterized by markedly reduced head size, brain weight and significant neurological deficits. There are four isoforms of CDK5RAP2 that are produced as a result of alternative splicing events.
Description:
The innate immune system detects viral infection by recognizing various viral components and triggers antiviral responses. Like the toll-like receptor 3 (TLR3), the cytoplasmic helicase retinoic acid inducible gene protein 1 (RIG1/DDX58) recognizes double-stranded (ds) RNA, a molecular pattern associated with viral infection. Unlike TLR3 however, RIG1/DDX58 activates the kinases TBK1 and IKKe through the adaptor protein IPS1. These kinases then phosphorylate the transcription factors IRF3 and IRF7 which are essential for the expression of type-I interferons. RIG1/DDX58 is required for the production of interferons in response to RNA viruses including paramyxoviruses, influenza virus, and Japanese encephalitis virus.
Description:
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.
Description:
Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinol to all-trans-retinal. Has no detectable activity towards 11-cis-retinol, 9-cis-retinol and 13-cis-retinol.
UOM:
1 * 100 µl
Promotion
,BOSSBS-11941R-A750EA
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