Aliases for NDUFAF5 Gene
External Ids for NDUFAF5 Gene
Previous HGNC Symbols for NDUFAF5 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 a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
GeneCards Summary for NDUFAF5 Gene
NDUFAF5 (NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 5) is a Protein Coding gene. Diseases associated with NDUFAF5 include ndufaf5-related mitochondrial complex 1 deficiency and mitochondrial complex i deficiency. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include methyltransferase activity.
UniProtKB/Swiss-Prot for NDUFAF5 Gene
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. May have methyltransferase activity.