SUCLA2 Chromosome 13
Succinate-CoA ligase ADP-forming subunit beta
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What This Gene Does
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]
Associated Conditions (6)
Mitochondrial DNA depletion syndrome
encephalomyopathic form with methylmalonic aciduria
Inborn genetic diseases
SUCLA2-related disorder
Global developmental delay
Familial prostate cancer
Key Variants
RS1031739823
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, Inborn genetic diseases
Health Risk
RS1233249991
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, SUCLA2-related disorder
Health Risk
RS139004670
Conflicting classifications of pathogenicity
Inborn genetic diseases, Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Health Risk
RS140383237
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, Mitochondrial DNA depletion syndrome
Health Risk
RS141295770
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, Inborn genetic diseases
Health Risk
RS142289138
Conflicting classifications of pathogenicity
Global developmental delay, Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Health Risk
RS144969057
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, Mitochondrial DNA depletion syndrome
Health Risk
RS149108442
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, SUCLA2-related disorder
Health Risk
RS1491338232
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, Mitochondrial DNA depletion syndrome
Health Risk
RS149929505
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, Inborn genetic diseases
Health Risk
RS1555256440
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, Inborn genetic diseases
Health Risk
RS1950196208
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, Mitochondrial DNA depletion syndrome
Health Risk
All Variants (51)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1950124035 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, Mitochondrial DNA depletion syndrome |