Cyp27a1 gene
WebJan 17, 2024 · Cerebrotendinous xanthomatosis (CTX, OMIM 213700) is a rare autosomal recessive condition characterized by disruption of bile acid synthesis due to inactivation of the CYP27A1 gene. Biallelic pathogenic variants are responsible for loss of enzymatic sterol-27-hydroxylase activity leading to reduced production of chenodeoxycholic acid … WebThis 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 endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic …
Cyp27a1 gene
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WebJun 1, 2024 · There are over 200 reported cases of human CYP27A1 gene mutations, which have been linked to cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive disorder of bile acid synthesis. 238, 239, 240 CTX patients have abnormally high levels of cholestanol in the blood and accumulate cholestanol and cholesterol in the brain … WebHuman Gene CYP27A1 (ENST00000258415.9) Description:Homo sapiens cytochrome P450 family 27 subfamily A member 1 (CYP27A1), mRNA; nuclear gene for …
WebDec 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 … WebMar 8, 2024 · Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the CYP27A1 gene. These patients lack mitochondrial …
WebClinVar archives and aggregates information about relationships among variation and human health. WebApr 1, 2024 · The 2 most common genetic mutations in Chinese adult CTX patients were c.1263+1G>A and c.379C>T. Exon 2 of the CYP27A1 gene was identified as a mutation hot spot. Conclusions: Chinese adult patients with CTX have complex clinical characteristics, a long diagnostic cycle, and various CYP27A1 gene mutations. Early diagnosis and …
CYP27A1 is a gene encoding a cytochrome P450 oxidase, and is commonly known as sterol 27-hydroxylase. This enzyme is located in many different tissues where it is found within the mitochondria. It is most prominently involved in the biosynthesis of bile acids.
WebSep 26, 2024 · Orthologous to human CYP27A1 (cytochrome P450 family 27 subfamily A member 1). [provided by Alliance of Genome Resources, Apr 2024] Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 [ (house mouse)] ... Data indicate that inhibition of CYP27A1 activity or knockdown and deletion of the Cyp27a1 gene induced … fish tacos with halibutWebNM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) AND Cholestanol storage disease Clinical significance: Conflicting interpretations of pathogenicity, Uncertain significance(1); Likely benign(1) (Last evaluated: Oct 26, 2024) fish tacos without breadcrumbsWebDescription: 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 … fish tacos with frozen fish sticksWebMar 17, 2024 · National Center for Biotechnology Information fish tacos with creamy chipotle sauceWebClinVar archives and aggregates information about relationships among variation and human health. can doves eat breadWebGene target information for CYP27A1. Find diseases associated with this biological target and compounds tested against it in bioassay experiments. can dove soap be used for shampooWebDec 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 … fish tacos with purple cabbage slaw