Cyp27a1 gene
WebClinVar archives and aggregates information about relationships among variation and human health. WebCYP27A1 - Diagnostic. Diagnostic testing of this gene is recommended to identify a potential genetic basis for a condition. This type of testing can inform prognosis and clinical care for a symptomatic patient or be used to screen unaffected patients (including family members) for increased genetic risk for the condition.
Cyp27a1 gene
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WebCYP27A1 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 … WebMar 17, 2024 · National Center for Biotechnology Information
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 … 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).
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 … 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 …
WebNov 26, 2014 · Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, which is involved in bile acid synthesis. The CYP27A1 gene is located on chromosome 2q33-qter and contains …
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 … fly winesWebEnzymatic oxidation of cholesterol. Cytochrome P450 enzymes (CYP) hydroxylate cholesterol at specific positions to produce hydroxycholesterols, OHCh, and facilitate its elimination to prevent its excess (Pikuleva, 2006). These enzymes include the 7-, 24-, and 27-hydroxylases, CYP7A1, CYP46A1, and CYP27A1, respectively. green rock trailheadWebThis 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 … green rock trail camWebThe CYP27A1 gene provides instructions for producing an enzyme called sterol 27-hydroxylase. This enzyme works in the pathway that breaks down cholesterol to form acids used in the digestion of fats (bile … green rocks identificationWebThe breakdown of free cholesterol inside Kupffer cells (KCs) by the mitochondrial enzyme CYP27A1 produces 27-hydroxycholesterol (27HC). We recently demonstrated that … green rocks in californiaWebCYP27A1. PROTEIN SUMMARY SECTION OVERVIEW RNA DATA ANTIBODY DATA. CYP27A1 INFORMATION. Proteini. Full gene name according to HGNC. Cytochrome … green rocks of utahWebMar 21, 2024 · CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP27A1 include Cerebrotendinous Xanthomatosis and Xanthomatosis . Among … green rocks minerals identification