Aliases for NDUFB3 Gene
External Ids for NDUFB3 Gene
Previous GeneCards Identifiers for NDUFB3 Gene
This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]
GeneCards Summary for NDUFB3 Gene
NDUFB3 (NADH:Ubiquinone Oxidoreductase Subunit B3) is a Protein Coding gene. Diseases associated with NDUFB3 include Mitochondrial Complex I Deficiency, Nuclear Type 25 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 NADH dehydrogenase (ubiquinone) activity.
UniProtKB/Swiss-Prot Summary for NDUFB3 Gene
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.