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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
    Findings suggest that the syncytiotrophoblast cells are the major site expressing P450scc in early placenta, and that increasing P450scc in placental villi lay a foundation for site-shift of progesterone biosynthesis from the corpus luteum to placenta.

    [Expression of cytochrome P450scc in human early placenta].
    Zhou ZP, Zhang XM, Fu GQ, Zhang CL.

    06/14/2010
    Genetic variants in CYP11A1 may influence endometrial cancer risk or may be markers for causal variants elsewhere.

    Genetic variation in CYP11A1 and StAR in relation to endometrial cancer risk.
    Terry K, McGrath M, Lee IM, Buring J, De Vivo I, Terry K, McGrath M, Lee IM, Buring J, De Vivo I., Free PMC Articles: PMC2849850, PMC2849850

    05/3/2010
    20-Hydroxycholecalciferol, product of vitamin D3 hydroxylation by P450scc, decreases NF-kappaB activity by increasing IkappaB alpha levels in human keratinocytes

    20-Hydroxycholecalciferol, product of vitamin D3 hydroxylation by P450scc, decreases NF-kappaB activity by increasing IkappaB alpha levels in human keratinocytes.
    Janjetovic Z, Zmijewski MA, Tuckey RC, DeLeon DA, Nguyen MN, Pfeffer LM, Slominski AT., Free PMC Article

    01/21/2010
    Our study carried out in a defined group of Indian women with PCOS suggests for the first time an individual, as well as combined, association of polymorphisms in CYP11A1 and CYP17 promoters with T levels.

    CYP11A1 and CYP17 promoter polymorphisms associate with hyperandrogenemia in polycystic ovary syndrome.
    Pusalkar M, Meherji P, Gokral J, Chinnaraj S, Maitra A, Pusalkar M, Meherji P, Gokral J, Chinnaraj S, Maitra A.

    01/21/2010
    Runx2 regulates enzymes involved in sterol/steroid-related metabolic pathways and that activation of Cyp11a1 by Runx2 may contribute to attenuation of osteoblast growth.

    The osteogenic transcription factor runx2 controls genes involved in sterol/steroid metabolism, including CYP11A1 in osteoblasts.
    Teplyuk NM, Zhang Y, Lou Y, Hawse JR, Hassan MQ, Teplyuk VI, Pratap J, Galindo M, Stein JL, Stein GS, Lian JB, van Wijnen AJ., Free PMC Article

    01/21/2010
    Promoter pentanucleotide variant may confer risk susceptibility in abnormal metabolism of patients with PCOS in Han Chinese women.

    Evaluation of association between the CYP11alpha promoter pentannucleotide (TTTTA)n polymorphism and polycystic ovarian syndrome among Han Chinese women.
    Hao CF, Bao HC, Zhang N, Gu HF, Chen ZJ, Hao CF, Bao HC, Zhang N, Gu HF, Chen ZJ.

    01/21/2010
    Among patients with essential hypertension, cholesterol side-chain cleavage & MDR1 loci are related to circulating endogenous ouabain & diastolic blood pressure, most likely by influencing EO synthesis and transmembrane transport, respectively.

    Steroid biosynthesis and renal excretion in human essential hypertension: association with blood pressure and endogenous ouabain.
    Tripodi G, Citterio L, Kouznetsova T, Lanzani C, Florio M, Modica R, Messaggio E, Hamlyn JM, Zagato L, Bianchi G, Staessen JA, Manunta P, Tripodi G, Citterio L, Kouznetsova T, Lanzani C, Florio M, Modica R, Messaggio E, Hamlyn JM, Zagato L, Bianchi G, Staessen JA, Manunta P., Free PMC Articles: PMC3518306, PMC3518306

    01/21/2010
    A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient.

    A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient.
    Rubtsov P, Karmanov M, Sverdlova P, Spirin P, Tiulpakov A.

    01/21/2010
    For CYP11A1 (cytochrome P450 family 11 subfamily A polypeptide 1), there was no association between the number of [TTTTA]( n ) repeats (D15S520) and risk of endometrial cancer

    Variants in hormone biosynthesis genes and risk of endometrial cancer.
    Olson SH, Orlow I, Bayuga S, Sima C, Bandera EV, Pulick K, Faulkner S, Tommasi D, Egan D, Roy P, Wilcox H, Asya A, Modica I, Asad H, Soslow R, Zauber AG, Olson SH, Orlow I, Bayuga S, Sima C, Bandera EV, Pulick K, Faulkner S, Tommasi D, Egan D, Roy P, Wilcox H, Asya A, Modica I, Asad H, Soslow R, Zauber AG., Free PMC Articles: PMC2683972, PMC2683972

    01/21/2010
    No difference in StAR and P450scc protein levels in granulosa cells obtained from older low-responder in vitro fertilization patients with that of young good-responder patients.

    Levels of steroidogenic acute regulatory protein and mitochondrial membrane potential in granulosa cells of older poor-responder women.
    Muhammad F, Yivgi-Ohana N, Shveiky D, Orly J, Alexander S, Laufer N.

    01/21/2010
    A microsatellite polymorphism (TTTTA)n in the promoter region of the CYP11A1 gene is associated with an increased risk of metastatic and high-grade prostate cancer. with microsatellite instability as a potential markrs for early detection.

    The presence of the CYP11A1 (TTTTA)6 allele increases the risk of biochemical relapse in organ confined and low-grade prostate cancer.
    Celhar T, Gersak K, Ovcak Z, Sedmak B, Mlinaric-Rascan I, Celhar T, Gersak K, Ovcak Z, Sedmak B, Mlinaric-Rascan I.

    01/21/2010
    Differential expression of steroidogenic factors 1 and 2, cytochrome p450scc, and steroidogenic acute regulatory protein in the pancreas.

    Differential expression of steroidogenic factors 1 and 2, cytochrome p450scc, and steroidogenic acute regulatory protein in human pancreas.
    Morales A, Vilchis F, Chávez B, Morimoto S, Chan C, Robles-Díaz G, Díaz-Sánchez V.

    01/21/2010
    Cholesterol sulfate has an inhibitory effect on progesterone production by regulating the expression of StAR and P450scc gene expression.

    Inhibitory effects of cholesterol sulfate on progesterone production in human granulosa-like tumor cell line, KGN.
    Tsutsumi R, Hiroi H, Momoeda M, Hosokawa Y, Nakazawa F, Koizumi M, Yano T, Tsutsumi O, Taketani Y.

    01/21/2010
    CYP11A1 pentanucleotide repeat polymorphism is associated with the risk of breast cancer but not fibrocystic breast disease in CHinese women.

    Polymorphisms in steroid hormone biosynthesis genes and risk of breast cancer and fibrocystic breast conditions in Chinese women.
    Sakoda LC, Blackston C, Doherty JA, Ray RM, Lin MG, Stalsberg H, Gao DL, Feng Z, Thomas DB, Chen C, Sakoda LC, Blackston C, Doherty JA, Ray RM, Lin MG, Stalsberg H, Gao DL, Feng Z, Thomas DB, Chen C., Free PMC Articles: PMC2791045, PMC2791045

    01/21/2010
    data imply that the previously unreported pathway of vitamin D3 metabolism by P450scc may have wider biological implications depending, for example, on the extent of adrenal gland or cutaneous metabolism.

    20-Hydroxyvitamin D3, a product of vitamin D3 hydroxylation by cytochrome P450scc, stimulates keratinocyte differentiation.
    Zbytek B, Janjetovic Z, Tuckey RC, Zmijewski MA, Sweatman TW, Jones E, Nguyen MN, Slominski AT., Free PMC Article

    01/21/2010
    Data show that CYP11A1 were expressed mainly in the zona fasciculata (ZF), followed by the zona reticularis in adrenal cortex attached to adrenocortical adenomas.

    Analysis of mRNA expression for steroidogenic enzymes in the remaining adrenal cortices attached to adrenocortical adenomas.
    Shigematsu K, Nakagaki T, Yamaguchi N, Kawai K, Sakai H, Takahara O.

    01/21/2010
    An interaction exists among LBP transcriptional factors at the transcriptional level of P450scc regulation.

    LBP-1b, LBP-9, and LBP-32/MGR detected in syncytiotrophoblasts from first-trimester human placental tissue and their transcriptional regulation.
    Henderson YC, Frederick MJ, Wang MT, Hollier LM, Clayman GL.

    01/21/2010
    Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.

    Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.
    Kim CJ, Lin L, Huang N, Quigley CA, AvRuskin TW, Achermann JC, Miller WL., Free PMC Article

    01/21/2010
    Observational study of genotype prevalence. (HuGE Navigator)

    Frequencies of promoter pentanucleotide (TTTTA)n of CYP11A gene in European and North African populations.
    Piras I, Falchi A, Moral P, Melis A, Giovannoni L, Paoli G, Calò C, Vona G, Varesi L.

    04/3/2008
    Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)See all PubMed (3) articles

    Polymorphisms in genes of the steroid hormone biosynthesis and metabolism pathways and endometrial cancer risk.
    Ashton KA, Proietto A, Otton G, Symonds I, McEvoy M, Attia J, Gilbert M, Hamann U, Scott RJ.

    CYP11A1 and CYP17 promoter polymorphisms associate with hyperandrogenemia in polycystic ovary syndrome.
    Pusalkar M, Meherji P, Gokral J, Chinnaraj S, Maitra A, Pusalkar M, Meherji P, Gokral J, Chinnaraj S, Maitra A.

    Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk.
    Bethke L, Webb E, Sellick G, Rudd M, Penegar S, Withey L, Qureshi M, Houlston R.

    03/13/2008
    Meta-analysis and HuGE review of gene-disease association. (HuGE Navigator)

    Variants in estrogen biosynthesis genes, sex steroid hormone levels, and endometrial cancer: a HuGE review.
    Olson SH, Bandera EV, Orlow I.

    03/13/2008
    Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)

    CYP1A1 Ile462Val and MPO G-463A interact to increase risk of adenocarcinoma but not squamous cell carcinoma of the lung.
    Larsen JE, Colosimo ML, Yang IA, Bowman R, Zimmerman PV, Fong KM.

    03/13/2008
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (30) articles

    Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ.

    A large-scale candidate gene association study of age at menarche and age at natural menopause.
    He C, Kraft P, Chasman DI, Buring JE, Chen C, Hankinson SE, Paré G, Chanock S, Ridker PM, Hunter DJ.

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

    Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer.
    Li J, Eriksson L, Humphreys K, Czene K, Liu J, Tamimi RM, Lindström S, Hunter DJ, Vachon CM, Couch FJ, Scott CG, Lagiou P, Hall P.

    Family-based analysis of candidate genes for polycystic ovary syndrome.
    Ewens KG, Stewart DR, Ankener W, Urbanek M, McAllister JM, Chen C, Baig KM, Parker SC, Margulies EH, Legro RS, Dunaif A, Strauss JF 3rd, Spielman RS.

    Genetic variation in CYP11A1 and StAR in relation to endometrial cancer risk.
    Terry K, McGrath M, Lee IM, Buring J, De Vivo I, Terry K, McGrath M, Lee IM, Buring J, De Vivo I.

    The spontaneous Ala147Thr amino acid substitution within the translocator protein influences pregnenolone production in lymphomonocytes of healthy individuals.
    Costa B, Pini S, Gabelloni P, Da Pozzo E, Abelli M, Lari L, Preve M, Lucacchini A, Cassano GB, Martini C.

    Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.
    Chakrabarti B, Dudbridge F, Kent L, Wheelwright S, Hill-Cawthorne G, Allison C, Banerjee-Basu S, Baron-Cohen S.

    Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3).
    Ahn J, Schumacher FR, Berndt SI, Pfeiffer R, Albanes D, Andriole GL, Ardanaz E, Boeing H, Bueno-de-Mesquita B, Chanock SJ, Clavel-Chapelon F, Diver WR, Feigelson HS, Gaziano JM, Giovannucci E, Haiman CA, Henderson BE, Hoover RN, Kolonel LN, Kraft P, Ma J, Le Marchand L, Overvad K, Palli D, Stattin P, Stampfer M, Stram DO, Thomas G, Thun MJ, Travis RC, Trichopoulos D, Virtamo J, Weinstein SJ, Yeager M, Kaaks R, Hunter DJ, Hayes RB.

    High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
    Yerges LM, Klei L, Cauley JA, Roeder K, Kammerer CM, Moffett SP, Ensrud KE, Nestlerode CS, Marshall LM, Hoffman AR, Lewis C, Lang TF, Barrett-Connor E, Ferrell RE, Orwoll ES, Zmuda JM, MrOS Research Group.

    Determination of genetic predisposition to patent ductus arteriosus in preterm infants.
    Dagle JM, Lepp NT, Cooper ME, Schaa KL, Kelsey KJ, Orr KL, Caprau D, Zimmerman CR, Steffen KM, Johnson KJ, Marazita ML, Murray JC.

    Evaluation of association between the CYP11alpha promoter pentannucleotide (TTTTA)n polymorphism and polycystic ovarian syndrome among Han Chinese women.
    Hao CF, Bao HC, Zhang N, Gu HF, Chen ZJ, Hao CF, Bao HC, Zhang N, Gu HF, Chen ZJ.

    Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G, Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK, Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT, McManus R, van Heel DA, Wijmenga C.

    Steroid biosynthesis and renal excretion in human essential hypertension: association with blood pressure and endogenous ouabain.
    Tripodi G, Citterio L, Kouznetsova T, Lanzani C, Florio M, Modica R, Messaggio E, Hamlyn JM, Zagato L, Bianchi G, Staessen JA, Manunta P, Tripodi G, Citterio L, Kouznetsova T, Lanzani C, Florio M, Modica R, Messaggio E, Hamlyn JM, Zagato L, Bianchi G, Staessen JA, Manunta P.

    Polymorphisms in mitochondrial genes and prostate cancer risk.
    Wang L, McDonnell SK, Hebbring SJ, Cunningham JM, St Sauver J, Cerhan JR, Isaya G, Schaid DJ, Thibodeau SN.

    The presence of the CYP11A1 (TTTTA)6 allele increases the risk of biochemical relapse in organ confined and low-grade prostate cancer.
    Celhar T, Gersak K, Ovcak Z, Sedmak B, Mlinaric-Rascan I, Celhar T, Gersak K, Ovcak Z, Sedmak B, Mlinaric-Rascan I.

    [Polymorphism in CYP11alpha and CYP17 genes and the etiology of hyperandrogenism in patients with polycystic ovary syndrome].
    Pérez MS, Cerrone GE, Benencia H, Márquez N, De Piano E, Frechtel GD.

    Haplotype analysis of CYP11A1 identifies promoter variants associated with breast cancer risk.
    Yaspan BL, Breyer JP, Cai Q, Dai Q, Elmore JB, Amundson I, Bradley KM, Shu XO, Gao YT, Dupont WD, Zheng W, Smith JR.

    Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer.
    Cunningham JM, Hebbring SJ, McDonnell SK, Cicek MS, Christensen GB, Wang L, Jacobsen SJ, Cerhan JR, Blute ML, Schaid DJ, Thibodeau SN.

    A systematic assessment of common genetic variation in CYP11A and risk of breast cancer.
    Setiawan VW, Cheng I, Stram DO, Giorgi E, Pike MC, Van Den Berg D, Pooler L, Burtt NP, Le Marchand L, Altshuler D, Hirschhorn J, Henderson BE, Haiman CA.

    A microsatellite polymorphism (tttta)n in the promoter of the CYP11a gene in Chinese women with polycystic ovary syndrome.
    Wang Y, Wu X, Cao Y, Yi L, Chen J.

    [Microsatellite polymorphism of (tttta) n in the promoter of CYP11a gene in Chinese women with polycystic ovary syndrome].
    Wang Y, Wu XK, Cao YX, Yi L, Zou Y, Qu JW, Hou LH.

    No association between the microsatellite polymorphism (TTTTA)n in the promoter of the CYP11A gene and ovarian hyperstimulation syndrome.
    Ferk P, Gersak K, Teran N.

    Role of androgen metabolism genes CYP1B1, PSA/KLK3, and CYP11alpha in prostate cancer risk and aggressiveness.
    Cicek MS, Liu X, Casey G, Witte JS.

    Role of the pentanucleotide (tttta)n polymorphisms of Cyp11alpha gene in the pathogenesis of hyperandrogenism in Chinese women with polycystic ovary syndrome.
    Tan L, Zhu G.

    Identifying susceptibility genes for prostate cancer--a family-based association study of polymorphisms in CYP17, CYP19, CYP11A1, and LH-beta.
    Douglas JA, Zuhlke KA, Beebe-Dimmer J, Levin AM, Gruber SB, Wood DP, Cooney KA.

    [Relationship between the microsatellite polymorphism of CYP11 alpha gene and the pathogenesis of hyperandrogenism of polycystic ovary syndrome in Chinese].
    Tan L, Zhu G.

    Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone.
    Gaasenbeek M, Powell BL, Sovio U, Haddad L, Gharani N, Bennett A, Groves CJ, Rush K, Goh MJ, Conway GS, Ruokonen A, Martikainen H, Pouta A, Taponen S, Hartikainen AL, Halford S, Järvelin MR, Franks S, McCarthy MI.

    Microsatellite polymorphism of steroid hormone synthesis gene CYP11A1 is associated with advanced prostate cancer.
    Kumazawa T, Tsuchiya N, Wang L, Sato K, Kamoto T, Ogawa O, Nakamura A, Kato T, Habuchi T.

    Interindividual variation in CYP1A1 expression in breast tissue and the role of genetic polymorphism.
    Goth-Goldstein R, Stampfer MR, Erdmann CA, Russell M.

    03/13/2008
    Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)See all PubMed (6) articles

    Polymorphisms in steroid hormone biosynthesis genes and risk of breast cancer and fibrocystic breast conditions in Chinese women.
    Sakoda LC, Blackston C, Doherty JA, Ray RM, Lin MG, Stalsberg H, Gao DL, Feng Z, Thomas DB, Chen C, Sakoda LC, Blackston C, Doherty JA, Ray RM, Lin MG, Stalsberg H, Gao DL, Feng Z, Thomas DB, Chen C.

    Variants in hormone biosynthesis genes and risk of endometrial cancer.
    Olson SH, Orlow I, Bayuga S, Sima C, Bandera EV, Pulick K, Faulkner S, Tommasi D, Egan D, Roy P, Wilcox H, Asya A, Modica I, Asad H, Soslow R, Zauber AG, Olson SH, Orlow I, Bayuga S, Sima C, Bandera EV, Pulick K, Faulkner S, Tommasi D, Egan D, Roy P, Wilcox H, Asya A, Modica I, Asad H, Soslow R, Zauber AG.

    Population-based case-control study of CYP11A gene polymorphism and breast cancer risk.
    Zheng W, Gao YT, Shu XO, Wen W, Cai Q, Dai Q, Smith JR.

    Relationship between serum hormone concentrations, reproductive history, alcohol consumption and genetic polymorphisms in pre-menopausal women.
    García-Closas M, Herbstman J, Schiffman M, Glass A, Dorgan JF.

    Gender differences in genetic susceptibility for lung cancer.
    Dresler CM, Fratelli C, Babb J, Everley L, Evans AA, Clapper ML.

    CYP1A1 I462V genetic polymorphism and lung cancer risk in a cohort of men in Shanghai, China.
    London SJ, Yuan JM, Coetzee GA, Gao YT, Ross RK, Yu MC.

    03/13/2008
    A review of trans-acting factors and cis-acting elements that regulate CYP11A1 gene expression.

    Transcriptional regulation of human CYP11A1 in gonads and adrenals.
    Guo IC, Shih MC, Lan HC, Hsu NC, Hu MC, Chung BC.

    01/21/2010