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 I DEFICIENCY, NUCLEAR TYPE 23

From UniProt:

Leigh syndrome (LS): An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. [MIM:256000]

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 Annotation Release 109, GRCh38.p12) (NCBI)

• B17.2
• DAP13
• MC1DN23