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55471 NDUFAF7

55471

NDUFAF7

NADH:ubiquinone oxidoreductase complex assembly factor 7

protein-coding

Homo sapiens

基因描述

Type Description
Definition NADH:ubiquinone oxidoreductase complex assembly factor 7

研究结论

Date Results Publications
2017-09-09 11:30:00 We propose that the heterozygous mutation (c.798C>G) in NDUFAF7 may contribute to the pathogenesis of pathologic myopia, possibly by interfering with the phototransduction cascade. Mitochondrial dysfunction during eye development may lead to pathologic myopia. 28837730
2015-05-30 12:18:00 NDUFAF7 functions to methylate NDUFS2 after it assembles into a complex I, stabilizing an early intermediate in the assembly pathway, and that this function is essential for normal vertebrate development. 24838397
2014-01-25 11:11:00 NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I. 24089531
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-10-04 12:23:00 a role for MidA in complex I assembly or stability 20406883

名称对应

Type IDs
Synonymous C2orf56, MidA, PRO1853
Gene
UniProtKB-ID: NDUF7_HUMAN
UniprotKB: Q7L592
UniParc: UPI000004A041, UPI00001A9D6C
EMBL: BX538031, AC007390, CH471053, BC012374, AF116671, BC004548
Ensembl: ENSG00000003509
KO: hsa:55471
Nucleutide sequences
EMBL-CDS: AAH12374.2, AAF71091.1, AAY14816.1, CAD97976.1, EAX00402.1, AAH04548.2
Gene_ORFName: PRO1853
Ensembl_TRS: ENST00000336237, ENST00000002125
Protein sequencees
Ensembl_PRO: ENSP00000002125, ENSP00000337431
RefSeq: NP_001336956.1, XP_024308745.1, XP_005264467.1, NP_001336954.1, NP_001336953.1, XP_011531258.1, NP_653337.1, NP_001077415.1
Others
UniRef100: UniRef100_Q7L592
UniRef90: UniRef90_Q7L592
UniRef50: UniRef50_Q7L592
UniGene: Hs.433466
CCDS: CCDS42673.1, CCDS1788.1

全选

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