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Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.

Human molecular genetics - 1 Jul 2014

Deutschmann Andrea J, Amberger Albert, Zavadil Claudia, Steinbeisser Herbert, Mayr Johannes A, Feichtinger René G, Oerum Stephanie, Yue Wyatt W, Zschocke Johannes

Abstract excerpt

17β-Hydroxysteroid dehydrogenase type 10 (HSD10) is multifunctional protein coded by the X-chromosomal HSD17B10 gene. Mutations in this gene cause HSD10 disease characterized by progressive neurological abnormalities and cardiomyopathy. Disease progression and severity of symptoms is unrelated to...

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PMID: 24549042
DOI: 10.1093/hmg/ddu072

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24549042-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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