2024年12月24日 · CYP11A1 (Cytochrome P450 Family 11 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP11A1 include Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete and Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11a1 Deficiency.

The CYP11A1 p.E314K variant impairs P450scc stability and is a possible cause of primary adrenal insufficiency in childhood. Pathogenic CYP11A1 variants potentially affect both adrenal and gonadal function, and male patients may develop TART.

CYP11A1, also known as cytochrome P450 side chain cleavage (P450scc), is a mitochondrial enzyme best characterized for its catalysis of the cleavage of the side chain of cholesterol to produce pregnenolone, the common precursor of steroid hormones [1,2].

2025年2月8日 · Cyp11a1 plays an important role in the development of peanut allergy, regulating peanut-induced allergic responses through effects on steroidogenesis, an essential pathway in T(H)2 differentiation. Cyp11a1 controls the phenotypic conversion of CD8(+) T cells from IFN-gamma to IL-13 production, linking steroidogenesis in CD8(+) T cells, a ...

2025年2月8日 · Clinical resource with information about CYP11A1, Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, and available tests.

2014年1月1日 · CYP11A1 is expressed mainly in the adrenals and gonads, and to a lesser extent brain, skin, and intestine. Transcription factor NR5A1 controls the expression of Cyp11a1 in the adrenals and testis, whereas NR5A2 controls the expression of Cyp11a1 in the intestine.

Cyp11a1 plays an important role in the development of peanut allergy, regulating peanut-induced allergic responses through effects on steroidogenesis, an essential pathway in T(H)2 differentiation. Cyp11a1 thus serves as a novel target in the regulation and treatment of …

2021年9月9日 · Read on to learn more about CYP11A1 function, gene variants and factors that increase or decrease its activity. What is CYP11A1? This enzyme is also called the cholesterol side-chain cleavage enzyme or P450scc.

Inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.

CYP11A1, found only in vertebrates, catalyzes the first step of steroidogenesis where cholesterol is converted to pregnenolone. The purified enzyme, also converts desmosterol and plant sterols including campesterol and β-sitosterol, to pregnenolone.