Gene Symbol | ATP5F1A |
Entrez Gene ID | 498 |
Full Name | ATP synthase F1 subunit alpha |
Synonyms | ATP5A,ATP5A1,ATP5AL2,ATPM,COXPD22,HEL-S-123m,MC5DN4,MOM2,OMR,ORM,hATP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Mar 2012]. |
Disorder MIM: | |
Disorder Html: | ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3); ?Combined oxidative phosphorylation deficiency 22, 616045 (3) |