NDUFAF2 gene

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 (PubMed:16200211, PubMed:19384974). 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 (PubMed:16200211, PubMed:27626371).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Mitochondrial complex 1 deficiency, nuclear type 10

From UniProt:

Mitochondrial complex I deficiency, nuclear type 10 (MC1DN10): A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging 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. MC1DN10 transmission pattern is consistent with autosomal recessive inheritance. [MIM:618233]

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

Molecular Location: base pairs 60,945,205 to 61,153,026 on chromosome 5 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 5q12.1, which is the long (q) arm of chromosome 5 at position 12.1
  • B17.2L
  • MC1DN10
  • mimitin
  • MMTN
  • NDUFA12L