Cyp27a1
WebJan 7, 2009 · The defect in cerebrotendinous xanthomatosis was shown by Cali et al. (1991) to reside in the CYP27A1 gene; see 606530.0001-606530.0002. In a 53-year-old man … 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 cholesterol in most tissues. Recent studies suggest that 27-hydroxycholesterol (27-HOC) activates liver orphan receptor α (LXRα) and induces the cholesterol efflux transporters …
Cyp27a1
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WebJul 11, 2024 · Summary. Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disorder caused by an abnormality in the CYP27A1 gene, resulting in …
WebCYP27A1 is a mitochondrial cytochrome P450 which can hydroxylate vitamin D3 and cholesterol at carbons 25 and 26, respectively. The product of vitamin D3 metabolism, 25 … WebCYP27A1. PROTEIN SUMMARY SECTION OVERVIEW RNA DATA ANTIBODY DATA. CYP27A1 INFORMATION. Proteini. Full gene name according to HGNC. Cytochrome …
WebThe .gov means it's official. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you're on a federal government site. WebCYP27A1 Polyclonal Antibody detects CYP27A1 protein at cytoplasm in human endometrial carcinoma by immunohistochemical analysis. Sample: Paraffin-embedded human endometrial carcinoma. CYP27A1 Polyclonal …
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 …
WebMar 6, 2024 · Mechanistically, TUBB2B induces the expression of CYP27A1, an enzyme responsible for the conversion of cholesterol to 27-hydroxycholesterol, which leads to the up-regulation of cholesterol and... city car durbanWebCYP27A1 is a key enzyme in bile acid synthesis; it catalyzes the first step in the normal oxidation of the steroid side chain, converting cholesterol, as well as other 7α-hydroxylated cholesterol metabolites, into 27-oxygenated steroids (Fig. 1).In its absence, biosynthesis of bile acids (especially chenodeoxycholic acid, CDCA) is reduced. The negative feedback … city card turinWebHuman Gene CYP27A1 (ENST00000258415.9) Description: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. citycare 24 erfahrungen wb communityWebNM_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) dick\\u0027s sporting goods sneaker launchWebApr 2, 2024 · CYP27A1 is lost in prostate cancer and predictive of progression. A, TCGA was queried for mRNA levels of CYP27A1 in tumor samples and Gleason score at the time of diagnosis. Patients whose tumors have a Gleason score >7 have significantly lower levels of expression of CYP27A1 than dick\\u0027s sporting goods smith machineWebCYP27A1 belongs to the mitochondrial CYPs and plays a crucial role in the cholesterol homeostasis. Analysis of ~60,000 human exomes points to underdiagnosis of … city card veniceWebCYP27A1 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). citycard wenen