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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), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $348.00 $299.00 10
NM_004493 Homo sapiens hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10), 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
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
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
WP465Tryptophan metabolism
WP2059Alzheimers Disease
BIOCYC
META_FAO-PWYfatty acid beta-oxidation I
HUMAN_ILEUDEG-PWYisoleucine degradation I
HUMAN_FAO-PWYfatty acid beta-oxidation I
Reactome
REACT_13Metabolism of amino acids and derivatives
REACT_197Branched-chain amino acid catabolism
REACT_111217Metabolism
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
Danio rerio (zebrafish)hsd17b10NP_001006098.1
Drosophila melanogaster (fruit fly)scuNP_523396.1
Caenorhabditis elegansard-1NP_502083.1
Xenopus (Silurana) tropicalis (western clawed frog)hsd17b10NP_001016511.1
Process
IDNameEvidence
GO:0006629lipid metabolic processTAS
GO:0008033tRNA processingIEA
GO:0009083branched-chain amino acid catabolic processTAS
GO:0034641cellular nitrogen compound metabolic processTAS
GO:0044281small molecule metabolic processTAS
GO:0055114oxidation-reduction processIEA
Component
IDNameEvidence
GO:0005737cytoplasmTAS
GO:0005739mitochondrionISS
GO:0005743mitochondrial inner membraneIEA
GO:0005759mitochondrial matrixTAS
GO:0005783endoplasmic reticulumIEA
GO:0005886plasma membraneTAS
Function
IDNameEvidence
GO:00038573-hydroxyacyl-CoA dehydrogenase activityEXP
GO:0005515protein bindingIPI
GO:0008709cholate 7-alpha-dehydrogenase activityTAS
GO:0030283testosterone dehydrogenase [NAD(P)] activityIEA
GO:0044822poly(A) RNA bindingIDA
GO:00470153-hydroxy-2-methylbutyryl-CoA dehydrogenase activityIEA
GeneCards HSD17B10
UniProt Q99714
Vega OTTHUMG00000021612
MIM 300256
Ensembl ENSG00000072506
HGNC 4800
HPRD 02223

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

What is the normal function of the HSD17B10 gene?

The HSD17B10 gene provides instructions for making an enzyme called HSD10, which is found in many areas of the body. The HSD10 enzyme is located within mitochondria, the energy-producing centers inside cells, where it has several different functions.

The HSD10 enzyme plays an important role in processing steroid hormones and fats. This enzyme also helps break down the protein building block (amino acid) isoleucine. Specifically, it is responsible for the fifth step in this process, in which 2-methyl-3-hydroxybutyryl-CoA is converted into 2-methylacetoacetyl-CoA. Through a similar method, the HSD10 enzyme processes a group of fats called branched-chain fatty acids.

This enzyme is also necessary for several chemical reactions involving female sex hormones (estrogens) and male sex hormones (androgens). HSD10 inactivates a potent form of estrogen called 17β-estradiol by converting it to a weaker form called estrone. This enzyme also generates a potent androgen called dihydrotestosterone from a weak androgen called 3α-androstanediol. The HSD10 enzyme is essential for maintaining appropriate levels of male and female sex hormones.

The HSD10 enzyme is needed for certain chemical reactions involving neurosteroids, which are substances that regulate the activity of the nervous system. This enzyme inactivates two neurosteroids called allopregnanolone and allotetrahydrodeoxycorticosterone. These neurosteroids interact with receptors that prevent the brain from being overloaded with too many signals. By regulating the activity of these neurosteroids, the HSD10 enzyme helps maintain normal brain function.

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