Preferred Label : Adrenal-Permissive HSD3B1 Genotype;
NCIt synonyms : Homozygous or Heterozygous Expression of HSD3B1 NM_000862.2:c.1100 ; HSD3B1(1245C) Positive; Adrenal Permissive HSD3B1(1245C) Positive; Adrenal Permissive HSD3B1(1245C); HSD3B1 (1245A C) Positive; HSD3B1 (1245A/C) or HSD3B1 (1245C/C);
NCIt related terms : HSD3B1 1245C Positive;
NCIt definition : A genetic finding indicating that a subject exhibits either homozygous or heterozygous
expression of cytosine at position 1100 of the coding sequence of the HSD3B1 gene.
This sequence encodes threonine 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 decreased proteasomal degradation of steroid Delta-isomerase and an
increased rate of conversion of dehydroepiandrosterone (DHEA) to androstenedione and
more potent androgens, such as testosterone and dihydrotestosterone. Expression of
this form of steroid Delta-isomerase may both affect progression of prostate and other
hormone-responsive cancers and have an impact on therapeutic efficacy.;
NCI Metathesaurus CUI : CL1912880;
Origin ID : C192788;
UMLS CUI : C5785411;
Semantic type(s)
- concept_is_in_subset
- related_to_genetic_biomarker
