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4714 NDUFB8

4714

NDUFB8

NADH:ubiquinone oxidoreductase subunit B8

protein-coding

Homo sapiens

基因描述

Type Description
Definition NADH:ubiquinone oxidoreductase subunit B8

研究结论

Date Results Publications
2019-07-06 12:50:00 We observed loss of NDUFB8 immunoreactivity in all patients with mutations affecting nuclear-encoding structural subunits and assembly factors, whilst only 3 of the 10 patients with mutations affecting mtDNA-encoded structural subunits showed loss of NDUFB8, confirmed by BN-PAGE analysis of CI assembly and IHC using an alternative, commercially-available CI (NDUFS3) antibody. 29142257
2018-12-22 12:15:00 NDUFB8 is a relevant gene in childhood-onset mitochondrial disease. 29429571
2010-01-21 00:00:00 Results describe PTEN and NDUFB8 aberrations in cervical cancer tissue. 17727244
2009-09-20 21:32:00 Observational study of gene-disease association. (HuGE Navigator) 19064571
2008-11-19 21:30:00 Observational study of gene-disease association. (HuGE Navigator) 18977241

名称对应

Type IDs
Synonymous ASHI, CI-ASHI, MC1DN32
Gene
UniProtKB-ID: NDUB8_HUMAN
UniprotKB: O95169
UniParc: UPI000045880F, UPI00001F955E, UPI000013005D
EMBL: BC000466, AK295867, CH471066, AF077028, CR533490, AL080056, AK289579, AF115968, BI602529, AF044958, AL133352, Y18944, BC019276
Ensembl: ENSG00000166136
KO: hsa:4714
Nucleutide sequences
EMBL-CDS: CAB46274.1, AAH00466.1, BAF82268.1, EAW49819.1, CAB45691.1, AAH19276.1, AAP97239.1, AAD27761.1, CAG38521.1, AAD05422.1, BAG58666.1, EAW49820.1
Ensembl_TRS: ENST00000370322, ENST00000370320, ENST00000299166
Protein sequencees
Ensembl_PRO: ENSP00000359346, ENSP00000359344, ENSP00000299166
RefSeq: NP_004995.1, NP_001271296.1, NP_001271297.1
Others
UniRef100: UniRef100_O95169
UniRef90: UniRef90_O95169
UniRef50: UniRef50_O95169
UniGene: Hs.523215
CCDS: CCDS65917.1, CCDS65916.1, CCDS7497.1

全选

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