Mar 30, 2025 · 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.

P450scc is a member of the cytochrome P450 superfamily of enzymes (family 11, subfamily A, polypeptide 1) and is encoded by the CYP11A1 gene. [6] The systematic name of this enzyme class is cholesterol, reduced-adrenal-ferredoxin:oxygen oxidoreductase (side-chain-cleaving). Other names include: steroid 20-22-lyase.

Apr 7, 2025 · Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency.

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].

Feb 8, 2025 · 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 ...

Feb 8, 2025 · 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.

Cytochrome P450, family 11, also known as CYP11, is a chordate cytochrome P450 monooxygenase family. This family contains many enzymes involved in steroidogenesis, such as Cholesterol side-chain cleavage enzyme (CYP11A1), Steroid 11β-hydroxylase (CYP11B1) and Aldosterone synthase (CYP11B2). [3] .

Granular cytoplasmic expression, most abundant in adrenal gland, placenta and testis. Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.

Jan 1, 2014 · 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.

The CYP11A1 gene is expressed in various organs and tissues, including the ovaries, kidneys, breasts, testes, and bladder that cause various disease. Here, we intend to examine the occurrence of polymorphisms in the CYP11A1 gene that increases PCOS risk with infertility.