HSD17B10

GENE INFORMATION

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Gene name

HSD17B10 (HGNC Symbol)

Synonyms

17b-HSD10, ABAD, CAMR, ERAB, HADH2, MHBD, MRPP2, MRXS10, SDR5C1

Description

Hydroxysteroid (17-beta) dehydrogenase 10 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

X

Cytoband

p11.22

Chromosome location (bp)

53431258 - 53434373

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000072506 (version 78.38)

Entrez gene

3028

UniProt

Q99714 (UniProt - Evidence at protein level)

neXtProt

NX_Q99714

Antibodypedia

HSD17B10 antibodies
 

PROTEIN VIEW

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HSD17B10-001
 
HSD17B10-002
 
HSD17B10-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HSD17B10-001 ENSP00000168216
ENST00000168216
Q99714
Show all »
Show » Show » 261 26.9 No 0
HSD17B10-002 ENSP00000364453
ENST00000375304
Q99714
Show all »
Show » Show » 252 26 No 0
HSD17B10-004 ENSP00000364447
ENST00000375298
Q5H928
Show all »
Show » Show » 169 17.2 No 0