NDUFAF2

NADH:ubiquinone oxidoreductase complex assembly factor 2

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

From NCBI Gene:

NADH:ubiquinone oxidoreductase (complex I) 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. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]

From UniProt:

Acts as a molecular chaperone for mitochondrial complex I assembly.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Leigh syndrome
  • Mitochondrial complex I deficiency

From UniProt:

Mitochondrial complex I deficiency (MT-C1D): A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. [MIM:252010]

Cytogenetic Location: 5q12.1, which is the long (q) arm of chromosome 5 at position 12.1

Molecular Location: base pairs 60,945,129 to 61,153,037 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q12.1, which is the long (q) arm of chromosome 5 at position 12.1
  • B17.2L
  • mimitin
  • MMTN
  • NDUFA12L