NDUFA12 gene

From NCBI Gene:

This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

From UniProt:

Covered on Genetics Home Reference:

• Leigh syndrome
• Mitochondrial complex I deficiency

From NCBI Gene:

• Mitochondrial complex 1 deficiency, nuclear type 23

From UniProt:

Mitochondrial complex I deficiency, nuclear type 23 (MC1DN23): 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. MC1DN23 transmission pattern is consistent with autosomal recessive inheritance. [MIM:618244]

Cytogenetic Location: 12q22, which is the long (q) arm of chromosome 12 at position 22

Molecular Location: base pairs 94,971,328 to 95,003,713 on chromosome 12 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

• B17.2
• DAP13
• MC1DN23