Gene: HSD17B3

Alternate names for this Gene: EDH17B3|SDR12C2

Gene Summary: This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia.

Gene is located in Chromosome: 9

Location in Chromosome : 9q22.32

Description of this Gene: hydroxysteroid 17-beta dehydrogenase 3

Type of Gene: protein-coding

rs119481077 in HSD17B3 gene and 17-Hydroxysteroid Dehydrogenase Deficiency PMID 9758445 1998 A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.

PMID 19498320 2009 17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.

PMID 24025597 2013 Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?

PMID 21214500 2011 Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis.

PMID 22212252 2011 17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings.

PMID 26545797 2016 Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.

PMID 8550739 1996 Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.

PMID 8075637 1994 Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.

PMID 11158067 2001 Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.

PMID 9709959 1998 Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).

PMID 23295294 2012 Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.

PMID 10599740 1999 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.

PMID 17509588 2008 17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.

rs7042315 in HSD17B3 gene and Smoking PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs7042315 in HSD17B3 gene and Smoking Behaviors PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.