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Article

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.

Journal of inherited metabolic disease - 1 Jan 2012

Zschocke Johannes

Abstract excerpt

The HSD17B10 gene is located on chromosome Xp11.2 and codes for a multifunctional protein called 17β-hydroxysteroid dehydrogenase type 10 (HSD10). This protein catalyzes the 2-methyl-3-hydroxybutyryl-CoA dehydrogenation (MHBD) reaction in isoleucine metabolism and is an essential component of mitochondrial RNase P required for the processing of mtDNA transcripts. HSD10 is required for normal mitochondrial...

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Identifiers

PMID: 22127393
DOI: 10.1007/s10545-011-9415-4

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.PMID 22127393Read ↗

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