" /> HSD3B2 wt Allele - CISMeF





Preferred Label : HSD3B2 wt Allele;

NCIt synonyms : Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- and Steroid Delta-Isomerase wt Allele; HSD3B; HSDB; SDR11E2; HSDB3B;

NCIt definition : Human HSD3B2 wild-type allele is located in the vicinity of 1p13.1 and is approximately 8 kb in length. This allele, which encodes 3 beta-hydroxysteroid dehydrogenase/delta 5- 4-isomerase type 2 protein, is involved in the oxidative conversion of ketosteroids during the biosynthesis of hormonal steroids. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency.;

NCIt note : The human HSD3B1 and HSD3B2 genes have 93.6% sequence identity, including the 5-prime and 3-prime untranslated regions. (OMIM); Ensembl and HGNC place this gene at 1p12.;

GenBank Accession Number : NM_000198;

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20/05/2024


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