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HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001037811 Homo sapiens hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $348.00 $299.00 10
NM_004493 Homo sapiens hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $348.00 $299.00 10

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Gene Symbol HSD17B10
Entrez Gene ID 3028
Full Name hydroxysteroid (17-beta) dehydrogenase 10
Synonyms 17b-HSD10, ABAD, CAMR, DUPXp11.22, ERAB, HADH2, HCD2, MHBD, MRPP2, MRX17, MRX31, MRXS10, SCHAD, SDR5C1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp11.2

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].
Disorder

MIM: 300256

17-beta-hydroxysteroid dehydrogenase X deficiency, 300438 (3);

mRNA Protein Product Sequence Price Select
NM_001037811, 91823617 NP_001032900, 83715985 3-hydroxyacyl-CoA dehydrogenase type-2 isoform 2 ORF Sequence $199.00
NM_004493, 91823611 NP_004484, 4758504 3-hydroxyacyl-CoA dehydrogenase type-2 isoform 1 ORF Sequence $199.00
KEGG
hsa00280Valine, leucine and isoleucine degradation
hsa05010Alzheimer's disease
WikiPathways
WP2059Alzheimers Disease
WP465Tryptophan metabolism
BIOCYC
META_ILEUDEG-PWYisoleucine degradation I
HUMAN_ILEUDEG-PWYisoleucine degradation I
HUMAN_FAO-PWYfatty acid beta-oxidation I
Reactome
REACT_111217Metabolism
REACT_13Metabolism of amino acids and derivatives
REACT_197Branched-chain amino acid catabolism
Homo sapiens (human)HSD17B10NP_004484.1
Pan troglodytes (chimpanzee)HSD17B10XP_003317521.1
Macaca mulatta (Rhesus monkey)HSD17B10XP_001087982.1
Canis lupus familiaris (dog)HSD17B10XP_538051.2
Bos taurus (cattle)HSD17B10NP_776759.1
Mus musculus (house mouse)Hsd17b10NP_058043.3
Rattus norvegicus (Norway rat)Hsd17b10NP_113870.1
Gallus gallus (chicken)HSD17B10XP_423479.3
Danio rerio (zebrafish)hsd17b10NP_001006098.1
Drosophila melanogaster (fruit fly)scuNP_523396.1
Caenorhabditis elegansard-1NP_502083.1
GeneCards HSD17B10
PDB 2O23, 1F67, 1U7T, 1SO8
UniProt Q6IBS9, Q99714
MIM 300256
Ensembl ENSG00000072506
HGNC 4800
HPRD 02223

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
3-hydroxyacyl-CoA dehydrogenase type-2
Names
3-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
NP_001032900.1
NP_004484.1

Interactant



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