HSD17B10

This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]

Description

Hydroxysteroid 17-beta dehydrogenase 10

Tissue specificity

Low tissue specificity

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (53431258 - 53434370)

Ensembl ID

ENSG00000072506  (ver. 103.38)

Orthologs

Mouse Hsd17b10: ENSMUSG00000025260

UniProt

Q99714

neXtProt

NX_Q99714

Human splice variants
Mouse splice variants

Protein structure