Gene: NDUFA12

Alternate names for this Gene: B17.2|DAP13|MC1DN23

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q22

Description of this Gene: NADH:ubiquinone oxidoreductase subunit A12

Type of Gene: protein-coding

rs249153 in NDUFA12 gene and Alzheimer's Disease PMID 24755620 2014 Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.

rs7306455 in NDUFA12 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs111463574 in NDUFA12 gene and Frontal fibrosing alopecia PMID 30850646 2019 Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.

rs111463574 in NDUFA12 gene and Postmenopausal frontal fibrosing alopecia PMID 30850646 2019 Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.