Aliases for NDUFV2 Gene
- NADH:Ubiquinone Oxidoreductase Core Subunit V2 2 3 5
- NADH Dehydrogenase [Ubiquinone] Flavoprotein 2, Mitochondrial 2 3 4
- NADH Dehydrogenase (Ubiquinone) Flavoprotein 2, 24kDa 2 3
- NADH-Ubiquinone Oxidoreductase 24 KDa Subunit 3 4
- Complex I 24kDa Subunit 2 3
- CI-24k 2 3
- Nuclear-Encoded Mitochondrial NADH-Ubiquinone Reductase 24Kd Subunit 3
External Ids for NDUFV2 Gene
Previous GeneCards Identifiers for NDUFV2 Gene
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]
GeneCards Summary for NDUFV2 Gene
NDUFV2 (NADH:Ubiquinone Oxidoreductase Core Subunit V2) is a Protein Coding gene. Diseases associated with NDUFV2 include Mitochondrial Complex I Deficiency, Nuclear Type 7 and Mitochondrial Complex I Deficiency, Nuclear Type 1. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and NADH dehydrogenase (ubiquinone) activity.
UniProtKB/Swiss-Prot Summary for NDUFV2 Gene
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).