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Article

Evolutionary origin of mutations in the primate cytochrome P450c21 gene.

American journal of human genetics - 1 Apr 1992

Kawaguchi H, O'hUigin C, Klein J

Abstract excerpt

The CYP21 gene codes for the enzyme cytochrome P450c21 (21-hydroxylase), which is critically involved in the synthesis of glucocorticoids and mineralocorticoids. Standard human haplotypes contain two copies of CYP21--a functional gene and a pseudogene. Inactivation of the functional gene leads to congenital adrenal hyperplasia (CAH). The pseudogene has three main defects: an 8-bp deletion in exon 3, a T insertion...

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PMID: 1550121
PMCID: PMC1682642

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