HSD17B10 - hydroxysteroid 17-beta dehydrogenase 10 Gene

Homo sapiens

Also known as ABAD; CAMR; ERAB; HCD2; MHBD; HADH2; MRPP2; MRX17; MRX31; SCHAD; MRXS10; SDR5C1; HSD10MD; 17b-HSD10; DUPXp11.22

Gene ID: 3028 | Gene type: protein coding

About HSD17B10

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:53,431,258-53,434,376 (from NCBI)

This gene has 9 transcripts (splice variants), 214 orthologues, 25 paralogues and is associated with 6 phenotypes. Ubiquitous expression in liver (RPKM 63.6), kidney (RPKM 48.2) and 25 other tissues.

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 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]

HSD17B10 Products(2)

mRNA	Protein	Name
NM_001037811.2	NP_001032900.1	3-hydroxyacyl-CoA dehydrogenase type-2 isoform 2
NM_004493.3	NP_004484.1	3-hydroxyacyl-CoA dehydrogenase type-2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 17-beta-hydroxysteroid dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	12917011	GOA
enables 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity	IDA IDA: Inferred from direct assay	18996107	GOA
enables 3-hydroxyacyl-CoA dehydrogenase activity	IDA IDA: Inferred from direct assay	12917011	GOA
enables chenodeoxycholate 7-alpha-dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	12917011	GOA
enables cholate 7-alpha-dehydrogenase activity	IDA IDA: Inferred from direct assay	12917011	GOA
enables isoursodeoxycholate 7-beta-dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	12917011	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9338779	GOA
enables tRNA binding	IDA IDA: Inferred from direct assay	29040705	GOA
enables testosterone dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	12917011	GOA
enables testosterone dehydrogenase [NAD(P)+] activity	IDA IDA: Inferred from direct assay	28888424	GOA
enables ursodeoxycholate 7-beta-dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	12917011	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in C21-steroid hormone metabolic process	IDA IDA: Inferred from direct assay	12917011	GOA
involved in androgen metabolic process	IDA IDA: Inferred from direct assay	12917011	GOA
involved in bile acid biosynthetic process	IDA IDA: Inferred from direct assay	12917011	GOA
involved in brexanolone metabolic process	IDA IDA: Inferred from direct assay	19706438	GOA
involved in estrogen metabolic process	IDA IDA: Inferred from direct assay	12917011	GOA
involved in fatty acid beta-oxidation	IDA IDA: Inferred from direct assay	12917011	GOA
involved in isoleucine catabolic process	IDA IDA: Inferred from direct assay	18996107	GOA
involved in mitochondrial tRNA 3'-end processing	IDA IDA: Inferred from direct assay	29040705	GOA
involved in mitochondrial tRNA 5'-end processing	IDA IDA: Inferred from direct assay	24549042	GOA
involved in mitochondrial tRNA methylation	IDA IDA: Inferred from direct assay	23042678	GOA
involved in mitochondrion organization	IMP IMP: Inferred from mutant phenotype	20077426	GOA
involved in protein homotetramerization	IDA IDA: Inferred from direct assay	25925575	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	24703694	GOA
part of mitochondrial ribonuclease P complex	IDA IDA: Inferred from direct assay	25925575	GOA
part of mitochondrial ribonuclease P complex	IPI IPI: Inferred from physical interaction	29880640	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	23042678	GOA
part of tRNA methyltransferase complex	IPI IPI: Inferred from physical interaction	23042678	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HSD17B10 Protein Structure

adh_short

0
100
200
261 a.a.

Protein Preferred Names

Protein Names

3-hydroxyacyl-CoA dehydrogenase type-2

3-hydroxy-2-methylbutyryl-CoA dehydrogenase

Related Diseases

Diseases

Alias

Hsd10 Mitochondrial Disease

2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency	Mhbd Deficiency
2-Methyl-3-Hydroxybutyric Aciduria	Hsd10 Disease
Hsd10 Deficiency	HSD10MD
Hsd17b10 Deficiency	17-Beta-Hydroxysteroid Dehydrogenase X Deficiency
3-Hydroxyacyl-Coa Dehydrogenase Ii Deficiency	Mrxs10
Camr	2m3hba
3-Hydroxy-2-Methylbutyryl-Coa Dehydrogenase Deficiency	3h2mbd Deficiency
Hydroxyacyl-Coa Dehydrogenase Ii Deficiency	Choreoathetosis With Mental Retardation And Abnormal Behavior
Mental Retardation With Choreoathetosis And Abnormal Behavior	17 Beta-Hydroxysteroid Dehydrogenase Type 10 Deficiency
17β-Hydroxysteroid Dehydrogenase Type 10 Deficiency	Hsd10 Disease, Infantile Type
2-Methyl-3-Hydroxybutyric Aciduria, Classic Type	2-Methyl-3-Hydroxybutyric Aciduria, Infantile Type
2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Classic Type	2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Infantile Type
Hsd10 Deficiency, Classic Type	Hsd10 Deficiency, Infantile Type
Hsd10 Disease, Classic Type	Mhbd Deficiency, Classic Type
Mhbd Deficiency, Infantile Type	Hsd10 Disease, Neonatal Type
2-Methyl-3-Hydroxybutyric Aciduria, Neonatal Type	2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Neonatal Type
Hsd10 Deficiency, Neonatal Type	Mhbd Deficiency, Neonatal Type
Hds10 Mitochondrial Disease	3-Hydroxyacyl-Coa Dehydrogenase Type 2 Deficiency
3-Hydroxyacyl-Coa Dehydrogenase Type-2 Deficiency	3-Hydroxyacyl-Coa Dehydrogenase Type Ii Deficiency
Hydroxyacyl-Coa Dehydrogenase, Type 2, Deficiency	Mental Retardation, X-Linked, Syndromic 10

Syndromic X-Linked Intellectual Disability Type 10

Hsd10 Deficiency, Atypical Type	Hsd10 Disease, Atypical Type
X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome	Mrxs10
Mental Retardation, X-Linked, Syndromic 10

Alpha-Methylacetoacetic Aciduria

Beta-Ketothiolase Deficiency	3-Ketothiolase Deficiency
3-Oxothiolase Deficiency	Mitochondrial Acetoacetyl-Coa Thiolase Deficiency
Alpha-Methylacetoaceticaciduria	Mat Deficiency
T2 Deficiency	2-Methyl-3-Hydroxybutyricacidemia
Beta Ketothiolase Deficiency	Pseudo-Zellweger Syndrome
2-Methyl-3-Hydroxybutyric Acidemia	3-Ktd Deficiency
Peroxisomal Thiolase Deficiency	2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency
3-Alpha-Oxothiolase Deficiency	Methylacetoacetyl-Coenzyme A Thiolase Deficiency
Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated	Β-Ketothiolase Deficiency
Alpha Methylacetoacetic Aciduria	Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency
Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency	3KTD
Aciduria, Alpha-Methylacetoacetic	Deficiency Of Acetyl-Coa Acetyltransferase
Deficiency Of Acetyl-Coa Acyltransferase	Hepatic Methionine Adenosyltransferase Deficiency
Bifunctional Peroxisomal Enzyme Deficiency

Hyperinsulinism

Hyperinsulinemia

Metabolic Acidosis

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

Chromosome 3q29 Duplication Syndrome

Chromosome 3q29 Microduplication Syndrome	Trisomy 3q29
Microduplication 3q29 Syndrome	3q29 Microduplication
3q29 Microduplication Syndrome	3q29 Interstitial Microduplication

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06390	HSD17B10 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HSD17B10	RGD	RGD:69231
Bos taurus	HSD17B10	VGNC	VGNC:29969
Macaca mulatta	HSD17B10	VGNC	VGNC:81419
Felis catus	HSD17B10	VGNC	VGNC:97457
Mus musculus	HSD17B10	MGD	MGI:1333871
Canis familiaris	HSD17B10	VGNC	VGNC:41801
Others	HSD17B10	NCBI

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