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LMP000324

Record overview

LMPD IDLMP000324
Gene ID3028
SpeciesHomo sapiens (Human)
Gene Namehydroxysteroid (17-beta) dehydrogenase 10
Gene SymbolHSD17B10
Synonyms17b-HSD10; ABAD; CAMR; DUPXp11.22; ERAB; HADH2; HCD2; MHBD; MRPP2; MRX17; MRX31; MRXS10; SCHAD; SDR5C1
Alternate names3-hydroxyacyl-CoA dehydrogenase type-2; mitochondrial RNase P subunit 2; AB-binding alcohol dehydrogenase; mitochondrial ribonuclease P protein 2; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase; short chain type dehydrogenase/reductase XH98G2; amyloid-beta peptide binding alcohol dehydrogenase; short chain L-3-hydroxyacyl-CoA dehydrogenase type 2; short chain dehydrogenase/reductase family 5C, member 1; endoplasmic reticulum-associated amyloid beta-peptide-binding protein
ChromosomeX
Map LocationXp11.2
EC Number1.1.1.35
SummaryThis 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]
OrthologsView orthologs and multiple alignments for HSD17B10

Proteins

3-hydroxyacyl-CoA dehydrogenase type-2 isoform 1
Refseq ID:NP_004484
Protein GI:4758504
UniProt ID:Q99714
mRNA ID:NM_004493
Length:261
RefSeq Status:REVIEWED
MAAACRSVKGLVAVITGGASGLGLATAERLVGQGASAVLLDLPNSGGEAQAKKLGNNCVFAPADVTSEKDVQTALALAKGKFGRVDVAVNCAGIAVASKT
YNLKKGQTHTLEDFQRVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASVAAFEGQVGQAAYSASKGGIVGMTLPIARDLAPIGIRVMTIAPGL
FGTPLLTSLPEKVCNFLASQVPFPSRLGDPAEYAHLVQAIIENPFLNGEVIRLDGAIRMQP
 
transit_peptide: 1..11
calculated_mol_wt: 1106
peptide sequence: 
MAAACRSVKGL

transit_peptide: 1..11
calculated_mol_wt: 1106
peptide sequence: 
MAAACRSVKGL
 
3-hydroxyacyl-CoA dehydrogenase type-2 isoform 2
Refseq ID:NP_001032900
Protein GI:83715985
UniProt ID:Q99714
mRNA ID:NM_001037811
Length:252
RefSeq Status:REVIEWED
MAAACRSVKGLVAVITGGASGLGLATAERLVGQGASAVLLDLPNSGGEAQAKKLGNNCVFAPADVTSEKDVQTALALAKGKFGRVDVAVNCAGIAVASKT
YNLKKGQTHTLEDFQRVLDVNLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASVAAFEGQVGQAAYSASKGGIVGMTLPIARDLAPIGLFGTPLLTSL
PEKVCNFLASQVPFPSRLGDPAEYAHLVQAIIENPFLNGEVIRLDGAIRMQP