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:

Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. May have methyltransferase activity.

Covered on Genetics Home Reference:

From NCBI Gene:

  • 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]

Leigh syndrome (LS): An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. [MIM:256000]

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 108, GRCh38.p7) (NCBI)

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