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, alcohols, and steroids. The protein has been implicated in the development of Alzheimer's disease, and mutations in the gene are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]

Chromosome

X (Chromosome progress)

Cytoband

p11.22

Chromosome location (bp)

53458206 - 53461320

Ensembl

ENSG00000072506 (version 73.37)

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
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Show » Show » 169 17.2 No 0