Cyp27a1

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August undefined, 2024

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... 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. See more CYP27A1 participates in the degradation of cholesterol to bile acids in both the classic and acidic pathways. It is the initiating enzyme in the acidic pathway to bile acids, yielding oxysterols by introducing a hydroxyl group to the carbon … See more Mutations in CYP27A1 are associated with cerebrotendineous xanthomatosis, a rare lipid storage disease. Inhibitors of CYP27A1 may be effective as adjuvants in the treatment of ER-positive breast cancer due to inhibition of the production of 27 … See more • GeneReviews/NCBI/NIH/UW entry on Cerebrotendinous Xanthomatosis • Cytochrome+P-450+CYP27A1 at the U.S. National Library of Medicine Medical Subject Headings See more • Steroidogenic enzyme • CYP27 family See more • Cali JJ, Russell DW (April 1991). "Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis". The Journal of Biological Chemistry. 266 (12): 7774–8. See more

CYP27A1 Loss Dysregulates Cholesterol Homeostasis in …

WebSep 26, 2024 · High expression of cytochrome P450 family 27 subfamily A member 1 (CYP27A1), the enzyme responsible for the synthesis of 27-Hydroxycholesterol (27HC), is associated with decreased progression free survival for ovarian cancer. WebFeb 16, 2024 · It was shown later that MBG is synthesized by the cells of the adrenal cortex and placenta by the transformation of bile acids using one of the enzymes of the P450 cytochrome family, CYP27A1 . MBG selectively interacts with the alpha-1 isoform of Na/K-ATPase, the main isoform of the enzyme in the kidneys and blood vessels, and it is an … dance minor checklist salisbury university

Cerebrotendinous xanthomatosis - About the Disease - Genetic …

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 … 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 is considered a potential therapeutic target in breast cancer and age-related neurodegenerative diseases; however, CYP27A1 inhibition should be ≤50%. Herein, 131 … dance me to your beauty like a burning violin

Effect and mechanism of vitamin D activation disorder on liver fibrosis ...

CYP27A1 - an overview ScienceDirect Topics

WebCYP27A1 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, … WebCYP27A1. PROTEIN SUMMARY SECTION OVERVIEW RNA DATA ANTIBODY DATA. CYP27A1 INFORMATION. Proteini. Full gene name according to HGNC. Cytochrome … birdthopia fontWebNov 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 … dance me to your beauty with a burning violin

"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

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 …

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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 … WebJul 11, 2024 · Summary. Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disorder caused by an abnormality in the CYP27A1 gene, resulting in …

WebWe hypothesized that low CYP27A1 expression, potentially resulting in cholesterol accumulation, occurs in prostate cancers that have higher expression of the cholesterol synthesis pathway. We also hypothesized that low CYP27A1 expression is associated with low vitamin D signaling. To test these hypotheses, we conducted a cross-sectional … WebCYP27A1 belongs to the mitochondrial CYPs and plays a crucial role in the cholesterol homeostasis. Analysis of ~60,000 human exomes points to underdiagnosis of …

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] WebCYP2R1 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.

WebSep 23, 2024 · Considering that CYP27A1 is responsible for regulating 27HC levels, it is reasonable to assume that the differential CYP27A1 expression may serve as a surrogate biomarker for 27HC levels in the...

WebThe 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 acids), … bird throwers for dog trainingWeb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 ... bird thongsWebApr 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 … bird throw pillowsWebOct 6, 2024 · To verify the vitamin D activation disorder in BA, we detected the expression of CYP2R1 and CYP27A1, which are important hydroxylases that convert vitamin D to 25 (OH)D in the liver. qPCR showed... bird thornWebThe .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. bird throw pillows outdoorWebThe 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 … dance minor requirements wake forestWebOther symptoms may include brittle bones that are prone to fracture (osteoporosis) and an increased risk of developing heart or lung failure because of lipid buildup. It is caused by … bird thruline wattmeter elements