Cyp27a1

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August undefined, 2024

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 … Web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 ...

Cerebrotendinous xanthomatosis: MedlinePlus Genetics

WebJul 1, 2024 · BackgroundCerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder of bile acid synthesis caused by mutations in the CYP27A1 gene. CTX is an underdiagnosed and potentially treatable disease, thus a detailed appreciation of the phenotypic spectrum and genetic characteristics are crucial for early diagnosis and … 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 … cs source 2 sistem gereksinimleri

CYP27A1 protein expression summary - The Human Protein Atlas

WebNM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met) AND Cholestanol storage disease Clinical significance: Uncertain significance (Last evaluated: Nov 1, 2024) Review status: WebSep 23, 2024 · 27-hydroxycholesterol (27HC), synthesized from cholesterol by the enzyme CYP27A1, differentially impacts estrogen receptor positive (ER+) breast cancer (BC) cell … WebOct 11, 2024 · Ablation or inhibition of CYP27A1, the enzyme responsible for the rate-limiting step in 27-hydroxycholesterol biosynthesis, significantly reduces metastasis in relevant animal models of cancer ... cs source 2 torrent

NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) AND …

WebNov 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 … 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). earl shipp national gridWebThe 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), … earl shipp

"WebClinVar archives and aggregates information about relationships among variation and human health. " - Cyp27a1

Cyp27a1

WebOther 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 genetic changes in the CYP27A1 gene. Resource (s) for Medical Professionals and Scientists on This Disease: WebCYP27A1 Polyclonal Antibody detects CYP27A1 protein at cytoplasm in human endometrial carcinoma by immunohistochemical analysis. Sample: Paraffin-embedded human endometrial carcinoma. CYP27A1 Polyclonal …

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WebSee all CYP27A1 primary antibodies Description Rabbit monoclonal [EPR7529] to CYP27A1 Host species Rabbit Tested applications Suitable for: Flow Cyt (Intra), WB, … 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...

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.

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 … 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 …

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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) earlshipWebJan 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] earl shirey obituaryWebWe 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 … csso titleWebCYP2R1 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. earl shirk remaxWebJul 11, 2024 · Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disorder caused by an abnormality in the CYP27A1 gene, resulting in a deficiency of the mitochondrial enzyme sterol 27-hydroxylase. The lack of this enzyme prevents cholesterol from being converted into a bile acid called chenodeoxycholic acid. cs source 2 beta keyWebThe 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 … cs source download siteWebCYP27A1 deficiency causes hypertriglyceridemia and hepatomegaly in mice, indicating that CYP27A1 function affects other metabolic processes in this species (J.J. Repa, 2000). Anomalous expression of the genes encoding the two other known hydroxylases that facilitate the entry of cholesterol into the bile acid biosynthetic pathway does not ... cs source can\\u0027t find lan server