NDUFAF4 gene

NADH:ubiquinone oxidoreductase complex assembly factor 4

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 are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]

From UniProt:

Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:18179882, PubMed:28853723). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion.

Covered on Genetics Home Reference:

From NCBI Gene:

  • MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15

From UniProt:

Mitochondrial complex I deficiency, nuclear type 15 (MC1DN15): 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. MC1DN15 transmission pattern is consistent with autosomal recessive inheritance. [MIM:618237]

Cytogenetic Location: 6q16.1, which is the long (q) arm of chromosome 6 at position 16.1

Molecular Location: base pairs 96,889,315 to 96,897,891 on chromosome 6 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 6q16.1, which is the long (q) arm of chromosome 6 at position 16.1
  • bA22L21.1
  • C6orf66
  • HRPAP20
  • HSPC125
  • MC1DN15
  • My013