The human ATP5F1Cgene encodes the gamma subunit of an enzyme called mitochondrial ATP synthase.
This gene encodes a subunit of mitochondrialATP synthase. Mitochondrial ATP synthase catalyzes adenosine triphosphate(ATP) synthesis, utilizing 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, F0, 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 gamma subunit of the catalytic core.
Alternatively splicedtranscript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14.
^Jabs EW, Thomas PJ, Bernstein M, Coss C, Ferreira GC, Pedersen PL (Jun 1994). "Chromosomal localization of genes required for the terminal steps of oxidative metabolism: alpha and gamma subunits of ATP synthase and the phosphate carrier". Hum Genet. 93 (5): 600–2. doi:10.1007/bf00202832. PMID8168843.
^Matsuda C, Endo H, Ohta S, Kagawa Y (Dec 1993). "Gene structure of human mitochondrial ATP synthase gamma-subunit. Tissue specificity produced by alternative RNA splicing". J Biol Chem. 268 (33): 24950–8. PMID8227057.
Wang H, Oster G (1998). "Energy transduction in the F1 motor of ATP synthase". Nature. 396 (6708): 279–82. doi:10.1038/24409. PMID9834036.
Hayakawa M, Sakashita E, Ueno E, et al. (2002). "Muscle-specific exonic splicing silencer for exon exclusion in human ATP synthase gamma-subunit pre-mRNA". J. Biol. Chem. 277 (9): 6974–84. doi:10.1074/jbc.M110138200. PMID11744705.