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10682 EBP

10682

EBP

EBP cholestenol delta-isomerase

protein-coding

Homo sapiens

基因描述

Type Description
Definition EBP cholestenol delta-isomerase

研究结论

Date Results Publications
2021-02-02 13:23:00 Thermostabilization of by Consensus Mutation: A for a Fungal Delta8-7 Sterol Isomerase. 32105736
2020-07-11 11:50:00 The human sterol delta(8)-Delta(7) isomerase was expressed in P. pastoris to 200mgL-1. The membrane protein enzyme could be solubilized readily in dodecyl maltoside. The solubilized protein displayed a symmetric peak on size exclusion chromatography. 31381990
2019-06-22 11:13:00 EBP adopts an unreported fold involving five transmembrane-helices (TMs) that creates a membrane cavity presenting a pharmacological binding site that accommodates multiple different ligands. Mutagenesis studies on specific residues abolish the isomerase activity and decrease the multidrug binding capacity. 31165728
2015-08-22 11:12:00 This study expands the current phenotypic spectrum of males with hypomorphic EBP mutations and supports to the hypothesis that there exists an X-linked recessive entity independent of CDPX2. 24700572
2015-05-16 10:31:00 Mutation analysis revealed a heterozygous novel missense mutation, c.204G>T (p.W68C), in exon 2. 24915996

名称对应

Type IDs
Synonymous CDPX2, CHO2, CPX, CPXD, MEND
Gene
UniProtKB-ID: EBP_HUMAN, A0A024QYX0_HUMAN
UniprotKB: Q15125, A0A024QYX0
UniParc: UPI000000DB82
EMBL: CH471224, CR542094, KJ921656, Z37986, BC046501, BC001549, AF196969, CR456815, BC001572, AF196972
Ensembl: ENSG00000147155
KO: hsa:10682
Nucleutide sequences
EMBL-CDS: AAH01572.1, CAG33096.1, EAW50773.1, AAH01549.1, CAA86068.1, CAG46891.1, AAH46501.1, AIL31429.1, EAW50775.1
Gene_ORFName: hCG_19812
Ensembl_TRS: ENST00000495186
Protein sequencees
Ensembl_PRO: ENSP00000417052
RefSeq: NP_006570.1
Others
UniRef100: UniRef100_Q15125
UniRef90: UniRef90_Q15125
UniRef50: UniRef50_Q15125
UniGene: Hs.30619
CCDS: CCDS14300.1

全选

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