NDUFA11 gene

NADH:ubiquinone oxidoreductase subunit A11

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

From NCBI Gene:

This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

From UniProt:

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. 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.

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]

Cytogenetic Location: 19p13.3, which is the short (p) arm of chromosome 19 at position 13.3

Molecular Location: base pairs 5,891,276 to 5,904,013 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19p13.3, which is the short (p) arm of chromosome 19 at position 13.3
  • B14.7
  • CI-B14.7