| Entrez Gene ID |
4724 |
| Official Gene Symbol |
NDUFS4 (GeneCards) |
| Full name |
NADH:ubiquinone oxidoreductase subunit S4 |
| Location |
5q11.2 |
| Other ids |
Vega : OTTHUMG00000096987
MIM : 602694
HGNC : HGNC:7711
Ensembl : ENSG00000164258
|
| Other names |
AQDQ,
CI-18,
CI-AQDQ,
CI-18kDa
|
| Summary |
This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |