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HSD17B6 - hydroxysteroid 17-beta dehydrogenase 6 Gene

Also Known as HSE; RODH; SDR9C6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8630

About HSD17B6

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:56,763,324-56,787,790 (from NCBI)

This gene has 10 transcripts (splice variants), 92 orthologues and 25 paralogues. Biased expression in liver (RPKM 415.0), lung (RPKM 33.0) and 2 other tissues.

Summary

The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. [provided by RefSeq, Aug 2013]

HSD17B6 Products (1)

mRNA	Protein	Name
NM_003725.4	NP_003716.2	17-beta-hydroxysteroid dehydrogenase type 6 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Referencias	Source
enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity	IDA IDA: Inferred from direct assay	11360992	GOA
enables all-trans-retinol dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	10896656	GOA
enables androstan-3-alpha,17-beta-diol dehydrogenase activity	IDA IDA: Inferred from direct assay	11360992	GOA
enables androsterone dehydrogenase activity	IDA IDA: Inferred from direct assay	10896656	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in brexanolone catabolic process	IDA IDA: Inferred from direct assay	10896656	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

HSD17B6 Protein Structure

adh_short

0
100
200
300
317 a.a.

Protein Preferred Names	Protein Names
17-beta-hydroxysteroid dehydrogenase type 6	17-beta-HSD 6

Related Diseases

Diseases	Alias
Ovarian Endometrioid Stromal Sarcoma
Ovary Sarcoma	Sarcoma Of Ovary
Cytochrome P450 Oxidoreductase Deficiency	Por Deficiency Pord Antley-Bixler Syndrome With Disordered Steroidogenesis Antley-Bixler Syndrome Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis Combined Partial Deficiency Of 17-Hydroxylase And 21-Hydroxylase Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 And P450c21 Deficiency Antley-Bixler Syndrome, Autosomal Dominant
Myopathy, Centronuclear, 2	Myopathy, Centronuclear, Autosomal Recessive Autosomal Recessive Centronuclear Myopathy CNM2 Centronuclear Myopathy 2 Ar-Cnm Myotubular Myopathy, Autosomal Recessive Autosomal Recessive Myotubular Myopathy Centronuclear Myopathy Autosomal Recessive Myopathy, Centronuclear, Type 2

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

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS06398	HSD17B6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HSD17B6	VGNC	VGNC:62849
Macaca mulatta	HSD17B6	VGNC	VGNC:108350
Rattus norvegicus	HSD17B6	RGD	RGD:708343
Canis familiaris	HSD17B6	VGNC	VGNC:41808
Mus musculus	HSD17B6	MGD	MGI:1351670
Others	HSD17B6	NCBI