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Article

Towards a unifying mechanism for CYP17 mutations that cause isolated 17,20-lyase deficiency.

Endocrine research - 1 Nov 2002

Auchus Richard J, Gupta Manisha K

Abstract excerpt

Cytochrome P450c17 (CYP17) is a single hemoprotein that catalyzes both the 17alpha-hydroxylase and 17,20-lyase reactions in all species thus far examined. Severe defects in CYP17 cause classical 17-hydroxylase deficiency, but other defects result in partial or selective deficiency states. One such variant is the syndrome of isolated 17,20-lyase deficiency. Recent detailed studies of the biochemical properties of...

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PMID: 12530647
DOI: 10.1081/erc-120016821

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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