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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

SUCLA2  -  succinate-CoA ligase, ADP-forming, beta...

Homo sapiens

Synonyms: A-BETA, ATP-specific succinyl-CoA synthetase subunit beta, MTDPS5, Renal carcinoma antigen NY-REN-39, SCS-betaA, ...
 
 
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High impact information on SUCLA2

  • Using transient expression and coimmunoprecipitation, we verified that mitochodrially expressed SCS-betaA associates specifically with ALAS-E and not with ALAS-N [1].
  • Our screening led to the isolation of the beta subunit of human ATP-specific succinyl CoA synthetase (SCS-betaA) [1].
  • Markedly decreased succinyl-CoA synthetase activity due to a deleterious mutation in SUCLA2, the gene encoding the beta subunit of the ADP-forming succinyl-CoA synthetase ligase, was found in muscle mitochondria of patients with encephalomyopathy and mtDNA depletion [2].

References

  1. Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia. Furuyama, K., Sassa, S. J. Clin. Invest. (2000) [Pubmed]
  2. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Elpeleg, O., Miller, C., Hershkovitz, E., Bitner-Glindzicz, M., Bondi-Rubinstein, G., Rahman, S., Pagnamenta, A., Eshhar, S., Saada, A. Am. J. Hum. Genet. (2005) [Pubmed]
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