Title : Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.

Pub. Date : 2018

PMID : 30233493






1 Functional Relationships(s)
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1 Context: The cholesterol side chain cleavage enzyme (CYP11A1) catalyzes the conversion of cholesterol to pregnenolone, the first rate-limiting step of steroidogenesis. Pregnenolone cytochrome P450 family 11 subfamily A member 1 Homo sapiens