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Gene: HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10) Homo sapiens
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Symbol: HSD17B10
Name: hydroxysteroid 17-beta dehydrogenase 10
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 17b-HSD10; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase; 3-hydroxyacyl-CoA dehydrogenase type-2; AB-binding alcohol dehydrogenase; ABAD; amyloid-beta peptide binding alcohol dehydrogenase; CAMR; DUPXp11.22; endoplasmic reticulum-associated amyloid beta-peptide-binding protein; ERAB; HADH2; HCD2; HSD10MD; hydroxysteroid (17-beta) dehydrogenase 10; hydroxysteroid dehydrogenase 10; mental retardation, X-linked 17; mental retardation, X-linked 31; mental retardation, X-linked, syndromic 10; MHBD; mitochondrial ribonuclease P protein 2; mitochondrial RNase P subunit 2; MRPP2; MRX17; MRX31; MRXS10; SCHAD; SDR5C1; short chain dehydrogenase/reductase family 5C member 1; short chain dehydrogenase/reductase family 5C, member 1; short chain L-3-hydroxyacyl-CoA dehydrogenase type 2; short chain type dehydrogenase/reductase XH98G2
Orthologs:
Mus musculus (house mouse) : Hsd17b10 (hydroxysteroid (17-beta) dehydrogenase 10)  MGI  Alliance
Rattus norvegicus (Norway rat) : Hsd17b10 (hydroxysteroid (17-beta) dehydrogenase 10)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Hsd17b10 (hydroxysteroid 17-beta dehydrogenase 10)
Pan paniscus (bonobo/pygmy chimpanzee) : HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10)
Canis lupus familiaris (dog) : HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Hsd17b10 (hydroxysteroid 17-beta dehydrogenase 10)
Sus scrofa (pig) : HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X53,431,258 - 53,434,376 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,458,206 - 53,461,323 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,474,931 - 53,478,048 (-)NCBINCBI36hg18NCBI36
Build 34X53,341,230 - 53,344,341NCBI
CeleraX57,289,763 - 57,292,880 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,515,835 - 50,518,952 (-)NCBIHuRef
CHM1_1X53,448,673 - 53,451,790 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Comparative Map Data
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Sequence

Nucleotide Sequences
Protein Sequences
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Additional Information

External Database Links
Nomenclature History
 
More on HSD17B10
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 732223
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.