HSD17B3

17β-Hydroxysteroid dehydrogenase 3 (17β-HSD3) is an enzyme that in humans is encoded by the HSD17B3 gene and is involved in androgen steroidogenesis.^[5][6][7]

HSD17B3
Identifiers
Aliases	HSD17B3, EDH17B3, SDR12C2, hydroxysteroid (17-beta) dehydrogenase 3, hydroxysteroid 17-beta dehydrogenase 3
External IDs	OMIM: 605573; MGI: 107177; HomoloGene: 20089; GeneCards: HSD17B3; OMA:HSD17B3 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q22.32 Start 96,235,306 bp[1] End 96,302,176 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 B3 Start 64,206,080 bp[2] End 64,237,044 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right testis left testis testicle right lobe of liver C1 segment tibial nerve substantia nigra gastric mucosa left lobe of thyroid gland olfactory zone of nasal mucosa Top expressed in Gonadal ridge testicle embryo spermatocyte seminiferous tubule embryo right ventricle gastrula blastocyst adrenal gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function testosterone 17-beta-dehydrogenase (NADP+) activity oxidoreductase activity testosterone dehydrogenase (NAD+) activity testosterone dehydrogenase [NAD(P) activity] Cellular component endoplasmic reticulum membrane intracellular membrane-bounded organelle endoplasmic reticulum Biological process testosterone biosynthetic process steroid biosynthetic process lipid metabolism androgen biosynthetic process male genitalia development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3293 15487 Ensembl ENSG00000130948 ENSMUSG00000033122 UniProt P37058 Q6FH62 P70385 RefSeq (mRNA) NM_000197 NM_008291 RefSeq (protein) NP_000188 NP_000188.1 NP_032317 Location (UCSC) Chr 9: 96.24 – 96.3 Mb Chr 13: 64.21 – 64.24 Mb PubMed search [3] [4]
Wikidata
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Function

See also: 17β-Hydroxysteroid dehydrogenase III deficiency

This isoform of 17β-HSD is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in impaired virilization of genetically male infants, formerly termed male pseudohermaphroditism.^[8][7]

See also

• 17β-Hydroxysteroid dehydrogenase