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Literature summary for 1.14.14.19 extracted from

  • Capper, C.P.; Liu, J.; McIntosh, L.R.; Larios, J.M.; Johnson, M.D.; Hollenberg, P.F.; Osawa, Y.; Auchus, R.J.; Rae, J.M.
    Functional characterization of the G162R and D216H genetic variants of human CYP17A1 (2017), J. Steroid Biochem. Mol. Biol., 178, 159-166 .
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
expression in HEK-293T cell Homo sapiens

Protein Variants

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

Organism UniProt Comment Textmining
Homo sapiens P05093
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