Cyp27a1 gene
WebMitochondrial sterol 27-hydroxylase (CYP27A1) catalyzes oxidative cleavage of the sterol side chain in the bile acid biosynthetic pathway in the liver and 27-hydroxylation of … WebNM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met) AND Cholestanol storage disease Clinical significance: Uncertain significance (Last evaluated: Nov 1, 2024) Review status:
Cyp27a1 gene
Did you know?
WebJul 1, 2024 · BackgroundCerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder of bile acid synthesis caused by mutations in the CYP27A1 gene. CTX is an underdiagnosed and potentially treatable disease, thus a detailed appreciation of the phenotypic spectrum and genetic characteristics are crucial for early diagnosis and … WebApr 6, 2024 · Generation and characterization of CTX iPSCs. In cholesterol metabolism, one critical gene for cholesterol oxidation is CYP27A1, which generates 27-hydroxycholesterol and is mutated in CTX [].To model this disease, CTX iPSCs were generated from dermal fibroblasts of a CTX patient with mutations in the CYP27A1 gene using an integration …
WebThe CYP27A1 gene is a member of the cytochrome P450 gene family. Enzymes produced from the cytochrome P450 genes are involved in the formation and breakdown of various molecules and chemicals within cells. The CYP27A1 gene provides instructions … WebDec 19, 2013 · Using the human CYP27 cDNA in a study of a panel of Chinese hamster/human hybrid cell clones, Cali and Russell (1991) assigned the CYP27A1 gene …
WebCYP27A1 INFORMATION. Proteini. Full gene name according to HGNC. Cytochrome P450 family 27 subfamily A member 1. Gene namei. Official gene symbol, which is typically a short form of the gene name, according to HGNC. CYP27A1 (CP27, CTX, CYP27) Protein classi. Assigned HPA protein class (es) for the encoded protein (s). WebDescription: Homo sapiens cytochrome P450 family 27 subfamily A member 1 (CYP27A1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_000784) RefSeq Summary (NM_000784): This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many …
Webcyp27a1.2. Predicted to enable cholesterol 26-hydroxylase activity and vitamin D3 25-hydroxylase activity. Predicted to be involved in calcitriol biosynthetic process from calciol and cholesterol metabolic process. Predicted to be active in mitochondrion. Human ortholog (s) of this gene implicated in cerebrotendinous xanthomatosis.
WebDec 4, 2024 · CYP27A1 cytochrome P450 family 27 subfamily A member 1 Gene ID: 1593, updated on 4-Dec-2024 Gene type: protein coding Also known as: CTX; CP27; CYP27 … how to sleep with your mother in lawWebThe disease is caused by variants affecting the gene represented in this entry; Description. ... Gene name Length; C9J1K5: C9J1K5_HUMAN: CYP27A1: 221: F8WD90: F8WD90_HUMAN: CYP27A1: 115: Features. Showing features for sequence conflict. Type. ID Position(s) Description; Sequence conflict: how to sleep with your eyes openedWebHuman ortholog(s) of this gene implicated in cerebrotendinous xanthomatosis. Orthologous to human CYP27A1 (cytochrome P450 family 27 subfamily A member 1); PARTICIPATES IN bile acid biosynthetic pathway; bile acid signaling pathway; cerebrotendinous xanthomatosis pathway; INTERACTS WITH (+)-schisandrin B; (25R)-cholest-5-ene … novad consulting reverse mortgageWebDec 4, 2024 · Go to Variation Viewer for CYP27A1 variants; Summary. This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes … how to sleep with your eyes open wikihowWebGene target information for CYP27A1. Find diseases associated with this biological target and compounds tested against it in bioassay experiments. novad management consulting headquartersWebCYP27A1 gene was mapped to chromosome 2q35 between markers D2S1371 and D2S424. It consists of nine exons and eight introns and spans 18.6 kb of DNA.The … how to sleep with zio patchWebMar 1, 2024 · Background Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by a mutation in the CYP27A1 gene. Due to the disruption of bile acid synthesis leading ... novad reverse mortgage payoff