Gene: ATP5F1A

Alternate names for this Gene: ATP5A|ATP5A1|ATP5AL2|ATPM|COXPD22|HEL-S-123m|MC5DN4|MOM2|OMR|ORM|hATP1

Gene Summary: This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16.

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.1

Description of this Gene: ATP synthase F1 subunit alpha

Type of Gene: protein-coding

rs587777788 in ATP5F1A gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 PMID 23596069 2013 Targeted exome sequencing of suspected mitochondrial disorders.

rs12457342 in ATP5F1A gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.