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:

Covered on Genetics Home Reference:

• Leigh syndrome
• Mitochondrial complex I deficiency

From NCBI Gene:

• MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13

From UniProt:

Mitochondrial complex I deficiency, nuclear type 13 (MC1DN13): 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. MC1DN13 transmission pattern is consistent with autosomal recessive inheritance. [MIM:618235]

Cytogenetic Location: 5q31.3, which is the long (q) arm of chromosome 5 at position 31.3

Molecular Location: base pairs 140,645,363 to 140,647,785 on chromosome 5 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

• B8
• CD14
• CIB8
• MC1DN13