SUCLA2
Chr 13ARsuccinate-CoA ligase ADP-forming subunit beta
Also known as: A-BETA, A-SCS, LINC00444, MTDPS5, SCS-betaA
Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]
Primary Disease Associations & Inheritance
Clinical highlights
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gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SUCLA2 · protein map & ClinVar variants
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External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
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RECRUITINGExternal Resources
Links to major genomics databases and tools