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6775066 ND5

6775066

ND5

NADH dehydrogenase subunit 5

protein-coding

Homo sapiens neanderthalensis

基因描述

Type Description
Definition NADH dehydrogenase subunit 5

研究结论

Date Results Publications
2019-02-16 11:23:00 In this study, we demonstrated that a missense mutation (m.12338T>C, p.1M>T) in the ND5 gene contributed to the pathogenesis of Leber's hereditary optic neuropathy (LHON) . The m.12338T>C mutation affected the first methionine (Met1) with a threonine and shortened two amino acids of ND5 29579248
2018-03-17 11:09:00 The authors propose that somatic mutation ND5:P265H resulted in down-regulated complex I enzyme activity, elevated and up-regulation of a set of nuclear anti-apoptotic genes epigenetically in a P53 dysfunctional cellular background generating pro-cancerous phenotypes. 28502718
2016-10-22 11:34:00 Calcium signaling in a cellular model consisting of fibroblasts from patients carrying mutations in the mitochondrial ND5 gene. 26206091
2014-11-08 11:15:00 Mutations in ND5 is associated with peripheral neuropathy of diabetes. 24456990
2014-03-08 12:28:00 Mutations in ND5, expected to inhibit complex I activity, could lead to generation of oxidative stress and favor glaucomatous condition. 23940637

名称对应

Type IDs
Gene
UniProtKB-ID: B4F445_HOMNE
UniprotKB: B4F445
UniParc: UPI00017BBF22
EMBL: MG025538, FM865410, KX198086, KJ533545, FM865408, KX198084, KU131206, FM865409, MG025537, AM948965, KJ533544, MK388903, KX198088, FM865407, KX198083, KX198087, KX198085, MG025539, MG025540
Nucleutide sequences
EMBL-CDS: AHZ61456.1, AUD37507.1, ANC95212.1, CAR95811.1, AUD37494.1, CAR95824.1, AUD37520.1, ANC95186.1, ANC95147.1, CAQ37656.1, ANC95160.1, CAR95837.1, CAR95850.1, AMQ34021.1, ANC95173.1, QIT06504.1, ANC95199.1, AHZ61469.1, AUD37533.1
Protein sequencees
RefSeq: YP_002124312.1
Others
UniRef100: UniRef100_B4F445
UniRef90: UniRef90_P03915
UniRef50: UniRef50_P03915

全选

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