ATP5MC3

Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element.

Dystonia, early-onset, and/or spastic paraplegia

DYTSPG

An autosomal dominant, highly penetrant movement disorder characterized by spastic paraplegia and/or dystonia to varying degrees in affected individuals. Cognition is not affected. There is high intra- and interfamilial variability in phenotype and age of onset. Some patients have onset of progressive focal or generalized dystonia in the first decade, whereas others develop progressive spastic paraplegia as adults. Some affected individuals have manifestations of both disorders.

None

The disease is caused by variants affecting the gene represented in this entry.

Trimethylated by ATPSCKMT at Lys-110. Methylation is required for proper incorporation of the C subunit into the ATP synthase complex and mitochondrial respiration.

Belongs to the ATPase C chain family.

• Mitochondrion membrane
• Multi-pass membrane protein

ATP5G3, ATP5MC3, ATP synthase lipid-binding protein, ATP synthase membrane subunit c locus 3, ATP synthase proteolipid P3, ATP synthase proton-transporting mitochondrial F(0) complex subunit C3, ATPase protein 9, ATPase subunit c

• entrezGene:518
• omim:602736
• swissprot:P48201

Proteins

14693Da