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
Gene: HSD17B3-AS1
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs767259718 in
HSD17B3;HSD17B3-AS1 gene and
17-Hydroxysteroid Dehydrogenase Deficiency
PMID 8550739 1996 Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
PMID 11158067 2001 Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
PMID 9758445 1998 A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.
PMID 8075637 1994 Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.
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 9709959 1998 Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).