HSD3B1 wt Allele

Preferred Label : HSD3B1 wt Allele;

NCIt synonyms : 3BETAHSDI; RP5-920G3.4; HSDB3A; 3BH; Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- and Steroid Delta-Isomerase 1 wt Allele; 3-Beta-Hydroxysteroid Dehydrogenase/Delta-Isomerase, Type I Gene; HSD3B; 3-Beta-HSD, Placental Type Gene; HSDB3; SDR11E1; 3BETAHSD; 3-Beta-Hydroxysteroid Dehydrogenase 1 Gene;

NCIt definition : Human HSD3B1 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 1 protein, is involved in both oxidative conversion of ketosteroids and the biosynthesis of hormonal steroids.;

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

GenBank Accession Number : S45679;

Details

Origin ID

C114368;

UMLS CUI

C3813310;

Automatic exact mappings (from CISMeF team)
- 3-beta(or 20-alpha)-hydroxysteroid dehydrogenase (substance) [SNOMED CT concept]
- adrenal hyperplasia 2 [MeSH Supplementary Concept]
OMIM relation
- 3-beta-hydroxysteroid dehydrogenase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p13.1 [NCIt concept]
gene_is_element_in_pathway
- Steroid Hormone Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Steroid Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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