Type | Description |
---|---|
Definition | NADH:ubiquinone oxidoreductase complex assembly factor 7 |
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 |
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
|
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