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Article

Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.

The Journal of clinical endocrinology and metabolism - 1 Aug 2009

Dhir Vivek, Reisch Nicole, Bleicken Caroline M, Lebl Jan, Kamrath Clemens, Schwarz Hans-Peter, Grötzinger Joachim, Sippell Wolfgang G, Riepe Felix G, Arlt Wiebke, Krone Nils

Abstract excerpt

CONTEXT: Steroid 17alpha-hydroxylase (CYP17A1, alias P450c17) deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. The CYP17A1 enzyme catalyzes two distinct reactions, 17alpha-hydroxylase and 17,20-lyase activities. OBJECTIVE: The aim of the study was to analyze the structural and functional consequences of three novel (A174E, V178D, and L465P) and one previously reported (R440C) CYP17A1 mutation...

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Identifiers

PMID: 19454579
DOI: 10.1210/jc.2009-0172

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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