NDUFAF1 gene

NADH:ubiquinone oxidoreductase complex assembly factor 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]

From UniProt:

Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).

Cytogenetic Location: 15q15.1, which is the long (q) arm of chromosome 15 at position 15.1

Molecular Location: base pairs 41,387,349 to 41,402,694 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q15.1, which is the long (q) arm of chromosome 15 at position 15.1
  • CGI-65
  • CGI65
  • CIA30