1. Gene
  2. HSD17B6 - hydroxysteroid 17-beta dehydrogenase 6 Gene

HSD17B6 - hydroxysteroid 17-beta dehydrogenase 6 Gene

Homo sapiens

Also known as HSE; RODH; SDR9C6

Gene ID: 8630 | Gene type: protein coding

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 Reference 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 Reference 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

adh_short: short chain dehydrogenase (31 - 194)

  • 0
  • 100
  • 200
  • 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

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