| Type | Description |
|---|---|
| Definition | NADH:ubiquinone oxidoreductase complex assembly factor 5 |
| Date | Results | Publications |
|---|---|---|
| 2019-08-17 11:29:00 | Our report adds significant new information to the mutational spectrum of NDUFAF5, further delineating the phenotypic heterogeneity of this mitochondrial defect. | 30473481 |
| 2017-01-14 10:20:00 | However, similar to another family member, RdmB, it catalyzes the introduction of a hydroxyl group, in the case of NDUFAF5, into Arg-73 in the NDUFS7 subunit of human complex I | 27226634 |
| 2012-05-26 10:24:00 | analysis of the combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7 | 21607760 |
| 2010-11-27 10:56:00 | A new cause of Leigh syndrome can be a defect in early complex I assembly due to C20orf7 mutations. | 19542079 |
| 2010-06-30 22:07:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| Type | IDs |
|---|---|
| Synonymous | C20orf7, MC1DN16, bA526K24.2, dJ842G6.1 |
| Gene |
UniProtKB-ID:
NDUF5_HUMAN
UniprotKB:
Q5TEU4
UniParc:
UPI00003B5C70,
UPI0000231C9F
EMBL:
BC073158,
AL109657,
AL161659,
AK025977,
CH471133,
BC005984,
AK289781
Ensembl:
ENSG00000101247
KO:
hsa:79133
|
| Nucleutide sequences |
EMBL-CDS:
BAB15305.1,
BAF82470.1,
EAX10311.1,
AAH05984.1,
AAH73158.1
Ensembl_TRS:
ENST00000463598,
ENST00000378106
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000420497,
ENSP00000367346
RefSeq:
XP_024307767.1,
NP_001339335.1,
XP_006723687.1,
XP_011527644.1,
NP_001034464.1,
NP_001339337.1,
NP_001339336.1,
NP_077025.2,
NP_001339332.1
|
| Others |
UniRef100:
UniRef100_Q5TEU4
UniRef90:
UniRef90_Q5TEU4
UniRef50:
UniRef50_Q5TEU4
UniGene:
Hs.472165
CCDS:
CCDS33441.1,
CCDS13118.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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