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Article

Functional characterization of mutant CYP17 genes isolated from a 17 alpha-hydroxylase/17,20-lyase-deficient patient.

Metabolism: clinical and experimental - 1 Dec 2004

Hahm Jong Ryeal, Jung Tae Sik, Byun Sook Yong, Lee Young Nam, Lee Kon Ho, Kim Deok Ryong

Abstract excerpt

CYP17 has a dual enzymatic activity that is necessary for steroid hormone biosynthesis. It catalyzes the 17 alpha-hydroxylation of progesterone or pregnenolone and also removes an acetyl moiety of hydroxy-progesterone or hydroxypregnenolone by its 17,20-lyase activity to produce androstenedione or dehydroepiandrosterone (DHEA), respectively. We previously isolated a compound heterozygous mutant of CYP17 from a...

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PMID: 15562394
DOI: 10.1016/j.metabol.2004.05.018

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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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