mitochondrially encoded ATP synthase membrane subunit 8
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Diagnostic Grade (Green)
Likely inborn error of metabolism
MITOCHONDRIALMitochondrial disorders
MITOCHONDRIALSkeletal Muscle Channelopathies
MITOCHONDRIALSkeletal muscle channelopathy
MITOCHONDRIALUndiagnosed metabolic disorders
MITOCHONDRIALParoxysmal central nervous system disorders
MITOCHONDRIALChildhood onset dystonia, chorea or related movement disorder
MITOCHONDRIALmitochondrial disease
MELAS syndrome
MERRF
MERRF syndrome
Isolated cytochrome C oxidase deficiency
leigh syndrome due to mitochondrial complex iv deficiency
Mitochondrial myopathy
inborn mitochondrial myopathy
mitochondrial non-syndromic sensorineural hearing loss
Isolated ATP synthase deficiency
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
ATP synthase F(0) complex subunit 8
Subunit 8, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that 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 (PubMed:37244256). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (PubMed:37244256). 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 (Probable). In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro (By similarity). Part of the complex F(0) domain (PubMed:37244256)
MT-ATP8 · P03928
Mean pLDDT
73.6/ 100
Confident
68 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
