NDUFA2 gene

From NCBI Gene:

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 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:

• Leigh syndrome

From NCBI Gene:

• Leigh syndrome

Cytogenetic Location: 5q31.2, which is the long (q) arm of chromosome 5 at position 31.2

Molecular Location: base pairs 140,645,363 to 140,647,785 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

• B8
• CD14
• CIB8