检测编号：NS0220049

基因 CYP21A2 与疾病

21-羟化酶缺陷型是经典的CAH，活产儿发生率约千分之一。CYP21A2基因指导合成21 -羟化酶，它是细胞色素P450酶家族的一部分。细胞色素P450酶在人体的许多过程，如协助反应分解的药物和帮助产生胆固醇，某些激素和脂肪。

21羟化酶存在于肾上腺，它位于肾脏上方，产生各种调节许多重要的功能在体内激素。21羟化酶对激素皮质醇和醛固酮的产生起作用。皮质醇帮助维持血糖水平，防止应力体，并抑制炎症反应。醛固酮是有时被称为盐保持激素因为它调节盐由肾脏保留量。盐潴留的影响及体内血液流体压力水平。

基因名称	基因全名	基因位置	外显子个数	CDS长度
CYP21A2	cytochrome P450, family 21, subfamily A, polypeptide 2	6p21.3	10	约2131 bp
基因摘要	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].