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    CYP11A1 cytochrome P450 family 11 subfamily A member 1 [ Homo sapiens (human) ]

    Gene ID: 1583, updated on 5-Mar-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    This meta-analysis suggests that CYP11A1 microsatellite [TTTA]n repeat polymorphisms may contribute to increasing susceptibility to polycystic ovary syndrome among Caucasian populations.

    Common polymorphisms in the CYP1A1 and CYP11A1 genes and polycystic ovary syndrome risk: a meta-analysis and meta-regression.
    Shen W, Li T, Hu Y, Liu H, Song M.

    01/17/2015
    the CYP11A1, CYP17A1, HSD3B2, SRD5A2, and HSD17B6 mRNA levels in metastases were significantly lower.

    Characterization of prostate cancer bone metastases according to expression levels of steroidogenic enzymes and androgen receptor splice variants.
    Jernberg E, Thysell E, Bovinder Ylitalo E, Rudolfsson S, Crnalic S, Widmark A, Bergh A, Wikström P., Free PMC Article

    07/26/2014
    The results of this study demonistrated that Cyp11a1 is a target of SF-1 in gonadotroph cells and promotes proliferation/survival of rat pituitary adenoma primary cells and cell lines.

    Transcriptome analysis of MENX-associated rat pituitary adenomas identifies novel molecular mechanisms involved in the pathogenesis of human pituitary gonadotroph adenomas.
    Lee M, Marinoni I, Irmler M, Psaras T, Honegger JB, Beschorner R, Anastasov N, Beckers J, Theodoropoulou M, Roncaroli F, Pellegata NS., Free PMC Article

    11/2/2013
    abnormally high expression of CYP11A inhibits trophoblastic proliferation and increases apoptosis and therefore could be involved in the pathogenesis of preeclampsia

    Abnormal apoptosis of trophoblastic cells is related to the up-regulation of CYP11A gene in placenta of preeclampsia patients.
    He G, Xu W, Chen Y, Liu X, Xi M., Free PMC Article

    10/19/2013
    study describes 7 patients with P450scc deficiency whose presentations ranged from severe neonatal adrenal crisis with wholly inactivating loss-of-function mutations in CYP11A1 to children who presented with normal male genitalia at up to 4 years of age

    Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.
    Tee MK, Abramsohn M, Loewenthal N, Harris M, Siwach S, Kaplinsky A, Markus B, Birk O, Sheffield VC, Parvari R, Hershkovitz E, Miller WL., Free PMC Article

    06/8/2013
    deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme cause neonatal adrenal failure

    Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure.
    Gucev ZS, Tee MK, Chitayat D, Wherrett DK, Miller WL.

    05/18/2013
    Tissues expressing P450scc can metabolize 7-dehydrocholesterol to biologically active 7-dehydropregnenolone.

    Cytochrome P450scc-dependent metabolism of 7-dehydrocholesterol in placenta and epidermal keratinocytes.
    Slominski AT, Kim TK, Chen J, Nguyen MN, Li W, Yates CR, Sweatman T, Janjetovic Z, Tuckey RC., Free PMC Article

    03/30/2013
    Mutations in the CYP11A1 gene encoding cholesterol side-chain cleavage enzyme cause disordered pregnenolone synthesis, and STAR mutations do not necessarily results in typical congenital lipoid adrenal hyperplasia.

    Genetic defects in pregnenolone synthesis.
    Katsumata N.

    02/9/2013
    Carriers of the CYP11A1 TCG haplotype had lower (P </= 0.017) left ventricular (LV) mass and LV mass index than noncarriers

    Left ventricular structure and function in relation to steroid biosynthesis genes in a white population.
    Jin Y, Kuznetsova T, Citterio L, Thijs L, Messaggio E, Casamassima N, Manunta P, Fagard R, Bianchi G, Staessen JA.

    01/5/2013
    SNP rs4077582 in CYP11A1 is strongly associated with susceptibility to PCOS and may alter the testosterone levels by the regulation of LH in different genotypes. No association was observed in rs11632698.

    Association between polymorphisms of the CYP11A1 gene and polycystic ovary syndrome in Chinese women.
    Zhang CW, Zhang XL, Xia YJ, Cao YX, Wang WJ, Xu P, Che YN, Wu XK, Yi L, Gao Q, Wang Y.

    11/17/2012
    NAD(+)-dependent SIRT deacetylase has a role in regulating the expression of mitochondrial steroidogenic P450

    Resveratrol stimulates cortisol biosynthesis by activating SIRT-dependent deacetylation of P450scc.
    Li D, Dammer EB, Sewer MB., Free PMC Article

    09/22/2012
    Daxx, a HIPK kinase substrate in the apoptosis pathway, was phosphorylated by HIPK3 at Ser-669 in response to cAMP stimulation.

    Death-associated protein 6 (Daxx) mediates cAMP-dependent stimulation of Cyp11a1 (P450scc) transcription.
    Lan HC, Wu CF, Shih HM, Chung BC., Free PMC Article

    04/14/2012
    Features of the retinal environment which affect the activities and product profile of cholesterol-metabolizing cytochromes P450 CYP27A1 and CYP11A1.

    Features of the retinal environment which affect the activities and product profile of cholesterol-metabolizing cytochromes P450 CYP27A1 and CYP11A1.
    Heo GY, Liao WL, Turko IV, Pikuleva IA., Free PMC Article

    04/7/2012
    Evidence that partial CYP11A1 deficiency has to be considered as a differential diagnosis in clinically isolated adrenal insufficiency.

    A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1).
    Parajes S, Kamrath C, Rose IT, Taylor AE, Mooij CF, Dhir V, Grötzinger J, Arlt W, Krone N.

    12/24/2011
    Repeat polymorphism in CYP11A1 is associated with Prostate Cancer.

    Repeat polymorphisms in estrogen metabolism genes and prostate cancer risk: results from the Prostate Cancer Prevention Trial.
    Tang L, Yao S, Till C, Goodman PJ, Tangen CM, Wu Y, Kristal AR, Platz EA, Neuhouser ML, Stanczyk FZ, Reichardt JK, Santella RM, Hsing A, Hoque A, Lippman SM, Thompson IM, Ambrosone CB., Free PMC Article

    12/3/2011
    Results present the crystal structure of the complex of human adrenodoxin and CYP11A1--the first of a complex between a eukaryotic CYP and its redox partner.

    Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system.
    Strushkevich N, MacKenzie F, Cherkesova T, Grabovec I, Usanov S, Park HW., Free PMC Article

    10/1/2011
    In PCOS patients, there was a correlation between UCP-2 and CYP11A1 expression, which was significantly higher than in the control group.

    Abnormal expression of uncoupling protein-2 correlates with CYP11A1 expression in polycystic ovary syndrome.
    Liu Y, Jiang H, He LY, Huang WJ, He XY, Xing FQ.

    10/1/2011
    We have identified regions of the promoter that control CYP11A1 expression in the brain and embryonic adrenals.

    Differential regulation of the human CYP11A1 promoter in mouse brain and adrenals.
    Chiang YF, Lin HT, Hu JW, Tai YC, Lin YC, Hu MC.

    07/30/2011
    This article reviews recent studies on cis-regulatory elements and trans-regulators of the CYP11A1 promoter, with special focus on their tissue-specific regulation.

    Regulation of steroid production: analysis of Cyp11a1 promoter.
    Shih MC, Chiu YN, Hu MC, Guo IC, Chung BC.

    06/25/2011
    Partial loss-of-function CYP11A1 mutation can present with a hormonal phenotype indistinguishable from nonclassic lipoid lipoid adrenal hyperplasia

    Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.
    Sahakitrungruang T, Tee MK, Blackett PR, Miller WL., Free PMC Article

    05/28/2011
    Polymorphism of CYP11A1 was associated with polycystic ovarian syndrome in Chinese patients.

    [Polymorphism of CYP11A1 gene in Chinese patients with polycystic ovarian syndrome].
    Gao GH, Cao YX, Yi L, Wei ZL, Xu YP, Yang C.

    04/9/2011
    P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.

    P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.
    Hauffa B, Hiort O.

    04/2/2011
    promoter variability of CYP11A1 does not play a key role in the pathogenesis of PCOS

    [(TTTTA), polymorphism in the promoter of the CYP11A1 gene in the pathogenesis of polycystic ovary syndrome].
    Prazáková S, Vanková M, Bradnová O, Lukásová P, Vcelák J, Dvoráková K, Vondra K, Vrbíková J, Bendlová B.

    04/2/2011
    No significant difference in P450(scc) mRNA was found among normal adrenal gland, APA or idiopathic hyperplastic nodules (P > 0.05). These results suggest that P450(scc) contributes little to the overproduction of aldosterone in APA and IHA.

    A dispensable role for P450(scc) in the overproduction of aldosterone in aldosterone-producing adenoma and idiopathic hyperaldosteronism in patients with primary aldosteronism.
    Fang Y, Zhao L, Zang M, Chen S, Yan F, Di X, Duren A.

    02/26/2011
    Meta-analysis of gene-disease association. (HuGE Navigator)

    Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.
    Canzian F, Cox DG, Setiawan VW, Stram DO, Ziegler RG, Dossus L, Beckmann L, Blanché H, Barricarte A, Berg CD, Bingham S, Buring J, Buys SS, Calle EE, Chanock SJ, Clavel-Chapelon F, DeLancey JO, Diver WR, Dorronsoro M, Haiman CA, Hallmans G, Hankinson SE, Hunter DJ, Hüsing A, Isaacs C, Khaw KT, Kolonel LN, Kraft P, Le Marchand L, Lund E, Overvad K, Panico S, Peeters PH, Pollak M, Thun MJ, Tjønneland A, Trichopoulos D, Tumino R, Yeager M, Hoover RN, Riboli E, Thomas G, Henderson BE, Kaaks R, Feigelson HS., Free PMC Article

    09/15/2010