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DYTSPG

Chr 2AD

ATP synthase membrane subunit c locus 3

Also known as: ATP5G3, DYTSPG, P3

NCBI Gene: 518 OMIM: 619681

The protein is subunit c of the mitochondrial ATP synthase proton channel, which is essential for ATP synthesis during oxidative phosphorylation. Mutations cause early-onset dystonia and/or spastic paraplegia with autosomal dominant inheritance. The early-onset nature indicates symptoms typically manifest in childhood, affecting the central nervous system's motor control pathways.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes 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, 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 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010]

OMIM ResearchGenerating clinical summary…