Title : A Novel Homozygous Mutation in CYP11A1 Gene is Associated with Severe Adrenal Insufficiency in 46, XX Patient.

Pub. Date : 2021 Oct

PMID : 32000563






1 Functional Relationships(s)
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1 Background: One of the causes of congenital adrenal insufficiency, a genetically heterogeneous disorder is a mutation in the CYP11A1 gene, which is responsible for the initiation of steriodogenesis by converting cholesterol to pregnenolone. Pregnenolone cytochrome P450 family 11 subfamily A member 1 Homo sapiens