RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomeras - Protein

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Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia. [Genes (Basel). 2022]
Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia.
Mellone S, Bertelli E, Roviglione B, Vurchio D, Ronzani S, Secco A, Felici E, Strozzi MM, Schena F, Giordano M. Genes (Basel). 2022 Nov 23; 13(12). Epub 2022 Nov 23.
Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. [J Clin Res Pediatr Endocrinol....]
Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene.
Güven A, Polat S. J Clin Res Pediatr Endocrinol. 2017 Mar 1; 9(1):85-90. Epub 2016 Jul 29.
A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family. [Horm Res Paediatr. 2016]
A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family.
Bizzarri C, Massimi A, Federici L, Cualbu A, Loche S, Bellincampi L, Bernardini S, Cappa M, Porzio O. Horm Res Paediatr. 2016; 86(1):53-61. Epub 2016 Apr 16.

RefSeq genomic sequence
See the genomic reference sequence for the HSD3B2 gene (NG_013349.1).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the HSD3B2 gene.

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P26439 [Domain Mapping of Disease Mut...]
P26439
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; ...
RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; AltName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II; Short=3-beta-HSD II; AltName: Full=3-beta-HSD adrenal and gonadal type; Includes: RecName: Full=3-beta-hydroxy-Delta(5)-steroid dehydrogenase; AltName: Full=3-beta-hydroxy-5-ene steroid dehydrogenase; AltName: Full=Progesterone reductase; Includes: RecName: Full=Steroid Delta-isomerase; AltName: Full=Delta-5-3-ketosteroid isomerase
gi|112770|sp|P26439.2|3BHS2_HUMAN

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