NDUFAF5 gene

NADH:ubiquinone oxidoreductase complex assembly factor 5

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

From NCBI 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]

From UniProt:

Arginine hydroxylase involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages (PubMed:18940309, PubMed:27226634). Acts by mediating hydroxylation of 'Arg-111' of NDUFS7 (PubMed:27226634). May also have methyltransferase activity.

Covered on Genetics Home Reference:

From NCBI Gene:

  • MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16

From UniProt:

Mitochondrial complex I deficiency, nuclear type 16 (MC1DN16): 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. MC1DN16 transmission pattern is consistent with autosomal recessive inheritance. [MIM:618238]

Cytogenetic Location: 20p12.1, which is the short (p) arm of chromosome 20 at position 12.1

Molecular Location: base pairs 13,785,026 to 13,821,580 on chromosome 20 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 20p12.1, which is the short (p) arm of chromosome 20 at position 12.1
  • bA526K24.2
  • C20orf7
  • dJ842G6.1
  • MC1DN16