Cyp27a1
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. WebNM_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)
Cyp27a1
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WebJan 7, 2009 · CYP27A1 606530 Clinical Synopsis Toggle Dropdown PheneGene Graphics Linear Radial INHERITANCE - Autosomal recessive [SNOMEDCT: 258211005][UMLS: C0441748HPO: HP:0000007][HPO: HP:0000007] HEAD & NECK Eyes - Juvenile cataracts [SNOMEDCT: 399336001][UMLS: C0302254HPO: HP:0001118] WebDec 4, 2024 · Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy. Xin S, Liu X, Liu H, Zeng X, Xiong Y, Zhou M, Zou Y, Zeng Y, Zheng J, Lai HXin S, et al. J Matern Fetal Neonatal Med, 2024 Dec. PMID 34930075; CYP27A1-dependent anti-melanoma activity of limonoid natural products targets …
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 is considered a potential therapeutic target in breast cancer and age-related neurodegenerative diseases; however, CYP27A1 inhibition should be ≤50%. Herein, 131 …
WebApr 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 WebCYP27A1. PROTEIN SUMMARY SECTION OVERVIEW RNA DATA ANTIBODY DATA. CYP27A1 INFORMATION. Proteini. Full gene name according to HGNC. Cytochrome …
WebCYP27A1 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 …
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 … northfield macedonia cemetery ohioWebCYP27A1 Polyclonal Antibody (Product # PA5-27946) diluted at 1:500. Antigen Retrieval: Citrate buffer, pH 6.0, 15 min. Product Details Product Specific Information Recommended positive controls: A549, mouse liver, … northfield machinesWeb本发明提供有效改善代谢的油脂组合物及其应用。本发明的油脂组合物，中，Sn‑2C16:0的含量为25～50wt％，Sn‑2C16:0占比为55～65wt％。本发明还提供该油脂组合物在制备用于调节对象胆汁酸代谢及肠道菌群等中的应用。在婴幼儿的配方奶粉和辅食中使用本发明的油脂组合物，有助于增加婴幼儿肠道菌 ... how to say 2015 in frenchWebCYP2R1 is present in the endoplasmic reticulum of the liver (the microsomal fraction). It has 25-hydroxylase activity, which converts cholecalciferol (vitamin D 3) into calcifediol (25-hydroxyvitamin D 3, also known as calcidiol), the major circulatory form of the vitamin. northfield ma building permitWebClinVar archives and aggregates information about relationships among variation and human health. how to say 200 dollars in spanishWebCYP27A1 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 … how to say 200 in spanish wordsWebNov 29, 2016 · Description: single nucleotide variant Variant details Conditions Gene (s) Help NM_000784.4 (CYP27A1):c.1151C>T (p.Pro384Leu) Allele ID 76739 Variant type single nucleotide variant Variant length 1 bp Cytogenetic location 2q35 Genomic location 2: 218814154 (GRCh38) GRCh38 UCSC 2: 219678877 (GRCh37) GRCh37 UCSC HGVS … northfield ma christmas ornament