Preferred Label : Adrenal-Restrictive HSD3B1 Genotype;
NCIt synonyms : HSD3B1(1245C) Negative; HSD3B1(1245A) Positive; HSD3B1 1245A Positive; Adrenal Restrictive HSD3B1(1245A) Positive; HSD3B1 (1245C) Negative; HSD3B1 (1245A) Positive; Homozygous HSD3B1 NM_000862.2:c.1100C A; Adrenal Restrictive HSD3B1(1245A); HSD3B1 (1245A/A); HSD3B1 1245C Negative;
NCIt definition : A genetic finding indicating that a subject exhibits homozygous expression of adenine
at position 1100 of the coding sequence of the HSD3B1 gene. This sequence encodes
asparagine at amino acid residue 367 of the 3 beta-hydroxysteroid dehydrogenase/Delta
5- 4-isomerase type 1 protein (steroid Delta-isomerase) and is associated with increased
proteasomal degradation of steroid Delta-isomerase and a decreased rate of conversion
of dehydroepiandrosterone (DHEA) to androstenedione. Expression of this form of steroid
Delta-isomerase may both affect the progression of prostate and other hormone-responsive
cancers and have an impact on therapeutic efficacy.;
NCI Metathesaurus CUI : CL1912855;
Origin ID : C192790;
UMLS CUI : C5785413;
Semantic type(s)
- concept_is_in_subset
- related_to_genetic_biomarker
