NDUFB3 gene

NADH:ubiquinone oxidoreductase subunit B3

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

From NCBI Gene:

This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]

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.

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: 2q33.1, which is the long (q) arm of chromosome 2 at position 33.1

Molecular Location: base pairs 201,071,739 to 201,085,750 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q33.1, which is the long (q) arm of chromosome 2 at position 33.1
  • B12
  • CI-B12