Cloned (Comment) | Organism |
---|---|
expression in HEK-293T cell | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D216H | natural genetic variant. Cells transiently expressing D216H demonstrate a selective impairment of 16alpha-hydroxyprogesterone synthesis by 2.1fold compared to wild-type CYP17A1, no effect on 17alpha-hydroxyprogesterone synthesis is observed | Homo sapiens |
G162R | natural genetic variant. Mutation leads to decreased CYP17A1 protein stability with a near 70% reduction in protein levels compared to wild-type. Mutant is preferentially ubiquitinated and degraded prematurely, with an enzyme half-life of about 2.5 h, proteasome inhibitor treatment recovers G162R protein expression | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P05093 | - |
- |