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Article

Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants.

The Journal of biological chemistry - 23 Mar 2012

Zhao Bin, Lei Li, Kagawa Norio, Sundaramoorthy Munirathinam, Banerjee Surajit, Nagy Leslie D, Guengerich F Peter, Waterman Michael R

Abstract excerpt

Steroid 21-hydroxylase (cytochrome P450 21A2, CYP21A2) deficiency accounts for ∼95% of individuals with congenital adrenal hyperplasia, a common autosomal recessive metabolic disorder of adrenal steroidogenesis. The effects of amino acid mutations on CYP21A2 activity lead to impairment of the synthesis of cortisol and aldosterone and the excessive production of androgens. In order to understand the structural and...

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Identifiers

PMID: 22262854
DOI: 10.1074/jbc.M111.323501
PMCID: PMC3323056

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants.PMID 22262854Read ↗

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