NDUFV2 (Entrez ID: 4729)

Entrez Gene ID 4729
Official Gene Symbol NDUFV2 (GeneCards)
Full name NADH:ubiquinone oxidoreductase core subunit V2
Location 18p11.22
Other ids Vega : OTTHUMG00000131593
MIM : 600532
HGNC : HGNC:7717
Ensembl : ENSG00000178127
Other names CI-24k
Summary The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]

Variants

Found 1 variant in this database.