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1583 CYP11A1

1583

CYP11A1

cytochrome P450 family 11 subfamily A member 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition cytochrome P450 family 11 subfamily A member 1

研究结论

Date Results Publications
2020-08-22 15:28:00 Expression and activation of the steroidogenic enzyme CYP11A1 is associated with IL-13 production in T cells from peanut allergic children. 32497050
2020-08-01 10:37:00 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. 32126981
2019-12-07 11:28:00 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. 30299480
2017-11-04 11:35:00 Structures of CYP11A1 in the Presence of Its Physiological Substrates and Alterations upon Binding of Adrenodoxin 28991453
2017-07-15 10:33:00 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. 28102888

名称对应

Type IDs
Synonymous CYP11A, CYPXIA1, P450SCC
Gene
UniProtKB-ID: CP11A_HUMAN, A0A0S2Z3R3_HUMAN
UniprotKB: P05108, A0A0S2Z3R3
UniParc: UPI0000EE71C0, UPI00000725F7
EMBL: M14565, X05372, X05374, X05370, KU178011, AK056794, AC090826, AK292300, X05373, X14257, X05369, M28253, BC032329, CH471136, X05371, X05368, X05367
Ensembl: ENSG00000288362, ENSG00000140459
KO: hsa:1583
Nucleutide sequences
EMBL-CDS: AAH32329.1, EAW99342.1, EAW99341.1, CAA32471.1, BAF84989.1, AAA52162.1, BAG51810.1, CAA28965.1, AAA36404.1, ALQ33469.1
Ensembl_TRS: ENST00000672385, ENST00000358632, ENST00000268053, ENST00000672913
Protein sequencees
Ensembl_PRO: ENSP00000499849, ENSP00000268053, ENSP00000500767, ENSP00000351455
RefSeq: NP_000772.2, NP_001093243.1
Others
UniRef100: UniRef100_P05108
UniRef90: UniRef90_P05108
UniRef50: UniRef50_P14137
UniGene: Hs.303980
CCDS: CCDS32291.1, CCDS45303.1

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