NDUFAF3 gene

NADH:ubiquinone oxidoreductase complex assembly factor 3

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

From NCBI Gene:

This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]

From UniProt:

Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).

Covered on Genetics Home Reference:

From NCBI Gene:

  • MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18

From UniProt:

Mitochondrial complex I deficiency, nuclear type 18 (MC1DN18): 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. MC1DN18 transmission pattern is consistent with autosomal recessive inheritance. [MIM:618240]

Cytogenetic Location: 3p21.31, which is the short (p) arm of chromosome 3 at position 21.31

Molecular Location: base pairs 49,020,475 to 49,023,495 on chromosome 3 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 3p21.31, which is the short (p) arm of chromosome 3 at position 21.31
  • 2P1
  • C3orf60
  • E3-3
  • MC1DN18