CYP21A2 gene: MedlinePlus Genetics
The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase, which is part of the cytochrome P450 family of enzymes. Learn about this gene and related health …
CYP21A2 cytochrome P450 family 21 subfamily A member 2
This is the first report of the gene founder effect of the CYP21A2 mutation occurring in ethnic Chinese (Taiwanese) congenital adrenal hyperplasia patients with 21-hydroxylase deficiency. …
21羟化酶缺陷症患者CYP21A2基因拷贝数变异及CYP21A1P/CYP21A2 …
分析21羟化酶缺陷症（21-OHD）患者的 CYP21A2 基因拷贝数变异情况，明确 CYP21A2 基因3拷贝重复、单拷贝缺失及 CYP21A1P / CYP21A2 融合基因的分型及所占比例。
CYP21A2 Gene - GeneCards | CP21A Protein | CP21A Antibody
2024年12月24日 · CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member 2) is a Protein Coding gene. Diseases associated with CYP21A2 include Adrenal Hyperplasia, Congenital, …
细胞色素 P450 家族 21 亚家族 A 成员 2（CYP21A2）基因 | MCE
细胞色素 P450 蛋白是单加氧酶，可催化许多涉及药物代谢和胆固醇、类固醇和其他脂质合成的反应。 该蛋白质定位于内质网并在 21 位羟基化类固醇。 它的活性是合成类固醇激素 (包括皮质 …
Variants of the CYP21A2 and CYP21A1P genes in ... - ScienceDirect
2013年3月15日 · Recent studies indicated that the 3.2-kb Taq I fragment may include multiple variants of chimeric CYP21A1P / CYP21A2 genes, a haplotype with dual mutations of IVS2 …
CYP21A2基因突变引起的临床表现和危害_澎湃号·湃客_澎湃新闻 …
2025年2月19日 · CYP21A2基因突变会导致一种叫做21-羟化酶缺乏症（21-OHD）的疾病。 21-羟化酶是一种在人体内负责生产重要激素的酶，这些激素包括皮质醇和醛固酮。
Comprehensive Genetic Testing of CYP21A2: A Retrospective …
The high genetic variability at the CYP21A2 locus makes the characterization of 21-OH alleles difficult, complicating disease-carrier detection and genetic counseling.
CYP21A2 cytochrome P450 family 21 subfamily A member 2 …
2024年10月10日 · Gene target information for CYP21A2 - cytochrome P450 family 21 subfamily A member 2 (human). Find diseases associated with this biological target and compounds tested …
CYP21A2人源基因|CYP21A2基因突变_致病性_靶点-RDDC官网
Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in …