HSD17B8 - hydroxysteroid 17-beta dehydrogenase 8 Gene

Homo sapiens

Also known as KE6; FABG; HKE6; FABGL; RING2; H2-KE6; SDR30C1; D6S2245E; dJ1033B10.9

Gene ID: 7923 | Gene type: protein coding

About HSD17B8

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:33,204,655-33,206,831 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 187 orthologues and 25 paralogues. Ubiquitous expression in liver (RPKM 17.4), kidney (RPKM 16.9) and 25 other tissues.

Summary

In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative Enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the Enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]

HSD17B8 Products(1)

mRNA	Protein	Name
NM_014234.5	NP_055049.1	(3R)-3-hydroxyacyl-CoA dehydrogenase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables (3R)-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	19571038	GOA
enables (3R)-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IMP IMP: Inferred from mutant phenotype	25203508	GOA
enables NADH binding	IDA IDA: Inferred from direct assay	25203508	GOA
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IDA IDA: Inferred from direct assay	17978863	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19571038	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in estrogen biosynthetic process	IDA IDA: Inferred from direct assay	17978863	GOA
involved in fatty acid biosynthetic process	IMP IMP: Inferred from mutant phenotype	25203508	GOA
involved in protein heterotetramerization	IDA IDA: Inferred from direct assay	25203508	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	19571038	GOA
part of oxidoreductase complex	IDA IDA: Inferred from direct assay	19571038	GOA
part of oxidoreductase complex	IMP IMP: Inferred from mutant phenotype	25203508	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

HSD17B8 Protein Structure

adh_short

0
100
200
261 a.a.

Protein Preferred Names

Protein Names

(3R)-3-hydroxyacyl-CoA dehydrogenase

17-beta-HSD 8

Related Diseases

Diseases

Alias

Arthrogryposis, Distal, Type 1c

DA1C	Distal Arthrogryposis Type 1c
Arthrogryposis, Distal, 1c

Multidrug-Resistant Tuberculosis

Tuberculosis, Multidrug-Resistant

Tuberculosis Multidrug-Resistant

Advanced Sleep Phase Syndrome, Familial, 3

Advanced Sleep Phase Syndrome 3	FASPS3
Familial Advanced Sleep Phase Syndrome 3	Sleep Phase Syndrome, Advanced, Familial, Type 3

Granulomatosis With Polyangiitis

GPA	Wegener Granulomatosis
Wegener Granulomatosis, Formerly	Midline Granulomatosis
Wg, Formerly	Necrotizing Respiratory Granulomatosis
Wg	Wegeners Granulomatosis
Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis

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

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-RS06400	HSD17B8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	HSD17B8	VGNC	VGNC:73466
Mus musculus	HSD17B8	MGD	MGI:95911
Bos taurus	HSD17B8	VGNC	VGNC:29977
Canis familiaris	HSD17B8	VGNC	VGNC:41810
Felis catus	HSD17B8	VGNC	VGNC:108364
Rattus norvegicus	HSD17B8	RGD	RGD:1303158

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