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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
    The multistep oxidation of cholesterol to pregnenolone by human cytochrome P450 11A1 is highly processive.

    The multistep oxidation of cholesterol to pregnenolone by human cytochrome P450 11A1 is highly processive.
    McCarty KD, Liu L, Tateishi Y, Wapshott-Stehli HL, Guengerich FP., Free PMC Article

    02/8/2024
    The Role of DNMT1 and C/EBPalpha in the Regulation of CYP11A1 Expression During Syncytialization of Human Placental Trophoblasts.

    The Role of DNMT1 and C/EBPα in the Regulation of CYP11A1 Expression During Syncytialization of Human Placental Trophoblasts.
    Zhu YN, Pan F, Gan XW, Liu Y, Wang WS, Sun K.

    01/4/2024
    Placental DNA methylation analysis of selective fetal growth restriction in monochorionic twins reveals aberrant methylated CYP11A1 gene for fetal growth restriction.

    Placental DNA methylation analysis of selective fetal growth restriction in monochorionic twins reveals aberrant methylated CYP11A1 gene for fetal growth restriction.
    Shi D, Zhou X, Cai L, Wei X, Zhang L, Sun Q, Zhou F, Sun L.

    09/26/2023
    Exploring the impact of CYP11A1's missense SNPs on the interaction between CYP11A1 and cholesterol: A comprehensive structural analysis and MD simulation study.

    Exploring the impact of CYP11A1's missense SNPs on the interaction between CYP11A1 and cholesterol: A comprehensive structural analysis and MD simulation study.
    Redouane S, Harmak H, Elkarhat Z, Charoute H, Malki A, Barakat A, Rouba H.

    09/7/2023
    Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency.

    Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency.
    Le BT, Duong CM, Nguyen TQ, Nguyen CM.,

    03/9/2023
    In-Silico Investigation of Effects of Single-Nucleotide Polymorphisms in PCOS-Associated CYP11A1 Gene on Mutated Proteins.

    In-Silico Investigation of Effects of Single-Nucleotide Polymorphisms in PCOS-Associated CYP11A1 Gene on Mutated Proteins.
    Muccee F, Bijou O, Harakeh S, Adawiyah R, Sayyed RZ, Haghshenas L, Alshehri D, Ansari MJ, Ghazanfar S., Free PMC Article

    08/6/2022
    Association Analysis of CYP11A1 Variants with Polycystic Ovary Syndrome: a Case-Control Study from North India.

    Association Analysis of CYP11A1 Variants with Polycystic Ovary Syndrome: a Case-Control Study from North India.
    Kaur R, Kaur T, Sudhir N, Kaur A.

    03/5/2022
    The significance of CYP11A1 expression in skin physiology and pathology.

    The significance of CYP11A1 expression in skin physiology and pathology.
    Slominski RM, Raman C, Elmets C, Jetten AM, Slominski AT, Tuckey RC., Free PMC Article

    12/11/2021
    Associations Between Cytochrome P450 (CYP) Gene Single-Nucleotide Polymorphisms and Second-to-Fourth Digit Ratio in Chinese University Students.

    Associations Between Cytochrome P450 (CYP) Gene Single-Nucleotide Polymorphisms and Second-to-Fourth Digit Ratio in Chinese University Students.
    Zhang J, Yang M, Luan P, Jia W, Liu Q, Ma Z, Dang J, Lu H, Ma Q, Wang Y, Mu C, Huo Z., Free PMC Article

    05/29/2021
    Expression and activation of the steroidogenic enzyme CYP11A1 is associated with IL-13 production in T cells from peanut allergic children.

    Expression and activation of the steroidogenic enzyme CYP11A1 is associated with IL-13 production in T cells from peanut allergic children.
    Wang M, Strand MJ, Lanser BJ, Santos C, Bendelja K, Fish J, Esterl EA, Ashino S, Abbott JK, Knight V, Gelfand EW., Free PMC Article

    08/22/2020
    Our findings indicated that rs28681535 in CYP11A1 might be protective factors for ischemic stroke, while CYP11A1 rs12912592 polymorphism be a risk factor for ischemic stroke in Chinese Han population.

    CYP3A4 and CYP11A1 variants are risk factors for ischemic stroke: a case control study.
    Gao N, Tang H, Gao L, Tu G, Luo H, Xia Y., Free PMC Article

    08/1/2020
    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.

    Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency.
    Kolli V, Kim H, Torky A, Lao Q, Tatsi C, Mallappa A, Merke DP., Free PMC Article

    12/7/2019
    Active Site Structures of CYP11A1 in the Presence of Its Physiological Substrates and Alterations upon Binding of Adrenodoxin

    Active Site Structures of CYP11A1 in the Presence of Its Physiological Substrates and Alterations upon Binding of Adrenodoxin.
    Zhu Q, Mak PJ, Tuckey RC, Kincaid JR., Free PMC Article

    11/4/2017
    The present study systematically evaluated the genetic effect of the estrogen metabolic pathway on alzheimer's based on 78 polymorphisms distributed across four genes. In the southern Chinese population, strong evidence of associations with AD were detected for polymorphisms in ESR2 and CYP11A1.

    Genetic Polymorphisms in Estrogen Metabolic Pathway Associated with Risks of Alzheimer's Disease: Evidence from a Southern Chinese Population.
    Chen LH, Fan YH, Kao PY, Ho DT, Ha JC, Chu LW, Song YQ.

    07/15/2017
    deregulation of miR-320a/RUNX2/CYP11A1 (CYP19A1) cascade plays an important role in the development of estrogen deficiency in human cumulus granulosa cells

    Deregulation of RUNX2 by miR-320a deficiency impairs steroidogenesis in cumulus granulosa cells from polycystic ovary syndrome (PCOS) patients.
    Zhang CL, Wang H, Yan CY, Gao XF, Ling XJ.

    06/10/2017
    The steroidogenic enzymes cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), cytochrome P450 17 alpha-hydroxylase (P450c17) and 3beta-hydroxysteroid dehydrogenase (3beta-HSD) showed immunoreactivity in 9/20 (45.0 %), 15/20 (75.0 %) and 13/20 (65.0 %), respectively, of ovarian-type stroma from pancreatic mucinous cystic neoplasm cases.

    Immunohistochemical analysis of steroidogenic enzymes in ovarian-type stroma of pancreatic mucinous cystic neoplasms: Comparative study of subepithelial stromal cells in intraductal papillary mucinous neoplasms of the pancreas.
    Ishida K, Sasano H, Moriya T, Takahashi Y, Sugimoto R, Mue Y, Murakami K, Fujishima F, Nakamura Y, Morikawa T, Motoi F, Suzuki T, Unno M, Sugai T.

    03/18/2017
    The findings of this study provided further support for the hypothesis that a susceptibility gene for autism spectrum disorder exists within or near the CYP11A1 gene in the Han Chinese population.

    A Family-Based Association Study of CYP11A1 and CYP11B1 Gene Polymorphisms With Autism in Chinese Trios.
    Deng HZ, You C, Xing Y, Chen KY, Zou XB.

    12/31/2016
    These findings contribute in clarifying the relationship between hormones regulating the early phase of steroidogenesis confirming that AMH is playing a suppressive role on CYP19A1 expression stimulated by gonadotropin in hGCs. Furthermore, a similar inhibitory effect for AMH was observed on P450scc gene expression when activated by gonadotropin treatment.

    The anti-Müllerian hormone (AMH) acts as a gatekeeper of ovarian steroidogenesis inhibiting the granulosa cell response to both FSH and LH.
    Sacchi S, D'Ippolito G, Sena P, Marsella T, Tagliasacchi D, Maggi E, Argento C, Tirelli A, Giulini S, La Marca A., Free PMC Article

    11/12/2016
    An epistatic effect between CYP11A1 and VDR polymorphisms may contribute to the predisposition to childhood asthma.

    1,25D3 prevents CD8(+)Tc2 skewing and asthma development through VDR binding changes to the Cyp11a1 promoter.
    Schedel M, Jia Y, Michel S, Takeda K, Domenico J, Joetham A, Ning F, Strand M, Han J, Wang M, Lucas JJ, Vogelberg C, Kabesch M, O'Connor BP, Gelfand EW., Free PMC Article

    05/21/2016
    The study characterizes the intermediates in the second and third steps of the enzymatic process by which P450scc converts cholesterol to pregnenolone.

    Evidence That Compound I Is the Active Species in Both the Hydroxylase and Lyase Steps by Which P450scc Converts Cholesterol to Pregnenolone: EPR/ENDOR/Cryoreduction/Annealing Studies.
    Davydov R, Strushkevich N, Smil D, Yantsevich A, Gilep A, Usanov S, Hoffman BM., Free PMC Article

    04/2/2016
    In prostate cancer, increased DNA methylation of SRD5A2 and CYP11A1 related to androgen biosynthesis functions may play a role in biochemical recurrence after patients' prostatectomy

    DNA methylation screening of primary prostate tumors identifies SRD5A2 and CYP11A1 as candidate markers for assessing risk of biochemical recurrence.
    Horning AM, Awe JA, Wang CM, Liu J, Lai Z, Wang VY, Jadhav RR, Louie AD, Lin CL, Kroczak T, Chen Y, Jin VX, Abboud-Werner SL, Leach RJ, Hernandez J, Thompson IM, Saranchuk J, Drachenberg D, Chen CL, Mai S, Huang TH.

    12/19/2015
    polymorphisms of CYP11A1 are related to breast cancer susceptibility in Han Chinese women of South China.

    Risk-association of CYP11A1 polymorphisms and breast cancer among Han Chinese women in Southern China.
    Sun M, Yang X, Ye C, Xu W, Yao G, Chen J, Li M., Free PMC Article

    09/5/2015
    Data indicate a role of cytochrome P450 11A1 (CYP11A1 in sterol metabolism.

    Lumisterol is metabolized by CYP11A1: discovery of a new pathway.
    Tuckey RC, Slominski AT, Cheng CY, Chen J, Kim TK, Xiao M, Li W., Free PMC Article

    07/25/2015
    CYP11A1 (tttta)(n) repeat polymorphism appeared to be a potential molecular marker for PCOS risk in our population. Gene-gene and gene-environmental interactions with respect to obesity may play a role in the early onset of this multifactorial condition.

    CYP11A1 microsatellite (tttta)n polymorphism in PCOS women from South India.
    Reddy KR, Deepika ML, Supriya K, Latha KP, Rao SS, Rani VU, Jahan P., Free PMC Article

    04/4/2015
    There may be an association between CYP11A1 promoter pentanucleotide repeat polymorphism and polycystic ovary syndrome. (Meta-analysis)

    Polymorphisms of pentanucleotide repeats (tttta)n in the promoter of CYP11A1 and their relationships to polycystic ovary syndrome (PCOS) risk: a meta-analysis.
    Yu M, Feng R, Sun X, Wang H, Wang H, Sang Q, Jin L, He L, Wang L.

    02/7/2015
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