Title : Heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A1) can cause transient adrenal insufficiency and life-threatening failure to thrive.

Pub. Date : 2018 Sep

PMID : 29995203






1 Functional Relationships(s)
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1 The first and rate-limited step of steroidogenesis in all steroidogenic tissues is the conversion of cholesterol to pregnenolone, catalysed by P450scc side-chain cleavage enzyme (CYP11A1 gene-SCC). Pregnenolone cytochrome P450 family 11 subfamily A member 1 Homo sapiens