| Type | Description |
|---|---|
| Definition | NADH:ubiquinone oxidoreductase subunit S4 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-31 13:19:00 | NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2. | 32335026 |
| 2020-05-02 12:28:00 | BAP31 interacts with mitochondria-localized proteins, including Tom40, to stimulate the translocation of NDUFS4, the component of complex I from the cytosol to the mitochondria. | 31206022 |
| 2017-10-21 12:29:00 | The clinical presentations of five individuals of Hutterite descent with Leigh disease are described herein. An identity-by-descent mapping and candidate gene approach was used to identify a novel homozygous c.393dupA frameshift mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 4 (NDUFS4) gene. | 27671926 |
| 2017-05-13 22:35:00 | The authors concluded that NDUFS4-related Leigh syndrome is invariably linked to an early onset severe phenotype that results in early death. | 27079373 |
| 2015-01-24 12:38:00 | The c.462delA deletion led to a complete lack of NDUFS4 peptide in isolated mitochondria, and this deficiency caused an inefficient mitochondrial complex I assembly and Leigh syndrome symptoms. | 24020637 |
| Type | IDs |
|---|---|
| Synonymous | AQDQ, CI-18, CI-18 kDa, CI-AQDQ, MC1DN1 |
| Gene |
UniProtKB-ID:
NDUS4_HUMAN,
A0A0S2Z433_HUMAN
UniprotKB:
O43181,
A0A0S2Z433
UniParc:
UPI0000130A98
EMBL:
KU178226,
CH471123,
BC005270,
AF020351
Ensembl:
ENSG00000164258
KO:
hsa:4724
|
| Nucleutide sequences |
EMBL-CDS:
AAB87865.1,
AAH05270.1,
EAW54884.1,
ALQ33684.1
Gene_ORFName:
hCG_39566
Ensembl_TRS:
ENST00000296684
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000296684
RefSeq:
XP_016864980.1,
NP_002486.1,
NP_001304980.1
|
| Others |
UniRef100:
UniRef100_O43181
UniRef90:
UniRef90_O43181
UniRef50:
UniRef50_O43181
UniGene:
Hs.528222
CCDS:
CCDS3960.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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