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6775098 ND1

6775098

ND1

NADH dehydrogenase subunit 1

protein-coding

Homo sapiens neanderthalensis

基因描述

Type Description
Definition NADH dehydrogenase subunit 1

研究结论

Date Results Publications
2017-08-19 12:43:00 It was concluded that the loss of ND1 stalls complex I assembly during the early stages of its biogenesis, which not only results in the loss of mature complex I but also disrupts the stability of complex IV and the respiratory supercomplex to cause mitochondrial dysfunction.- 26929434
2016-07-30 11:10:00 Compound mtDNA mutations of m.3635G > A and m.14502T > C presented with low penetration, and the patients with these compound mutations exhibited mild visual impairment. 24417559
2015-07-25 11:30:00 This mutation expands the spectrum of deleterious changes in mitochondrial DNA-encoded complex I polypeptides associated with sporadic Leber hereditary optic neuropathy patients. 24800637
2014-11-08 11:15:00 Mutations in ND1 is associated with peripheral neuropathy of diabetes. 24456990
2012-10-06 11:13:00 ND1 T3866C mutation leads to LHON. This mutation may be insufficient to produce a clinical phenotype. Other modifier factors may contribute to the phenotypic manifestation of the T3866C mutation. 22577081

名称对应

Type IDs
Gene
UniProtKB-ID: A0A059UBJ6_HOMNE, B4F448_HOMNE
UniprotKB: A0A059UBJ6, B4F448
UniParc: UPI00045ECA6D, UPI00017BBF1C
EMBL: MK388903, KJ533544, AM948965, MG025537, KX198087, KX198083, MG025540, MG025539, KX198085, KX198088, FM865407, FM865408, KX198086, FM865410, MG025538, KJ533545, FM865409, KU131206, KX198084, MG025536
Nucleutide sequences
EMBL-CDS: AUD37523.1, QIT06494.1, AUD37484.1, ANC95176.1, AUD37497.1, AMQ34011.1, AUD37471.1, ANC95189.1, ANC95202.1, AHZ61446.1, ANC95163.1, AUD37510.1, AHZ61459.1, ANC95137.1, ANC95150.1, CAR95801.1, CAR95840.1, CAR95827.1, CAR95814.1, CAQ37646.1
Protein sequencees
RefSeq: YP_002124302.2
Others
UniRef100: UniRef100_A0A059UBJ6
UniRef90: UniRef90_P03886
UniRef50: UniRef50_P03886

全选

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