SUCLA2 Antibody

1. SUCLA2 mutation is associated with Down syndrome and mitochondrial depletion syndrome. PMID: 28749033
2. The patient's cells lack the SUCLG1 protein, with significantly reduced levels of SUCLA2 and SUCLG2 protein PMID: 27484306
3. Sucla2 is related to the developmental stages of mouse spermatogenesis. Knockdown of Sucla2 decreases the viability of mouse spermatocytes by inducing apoptosis via decreased mitochondrial function of the cells. PMID: 27766610
4. SUCLA2 mutations should be analyzed in patients with slowly progressive encephalomyopathy, even in the absence of methylmalonic aciduria or mitochondrial DNA depletion. PMID: 24986829
5. This study demonstrated that SUCLA2 is expressed exclusively in neurons in the human cerebral cortex. PMID: 24085565
6. Identification of a novel mutation in SUCLA2 in two cousins affected with encephalomyopathy, is reported. PMID: 23759946
7. A novel homozygous mutation in SUCLA2 gene has been associated with severe mitochondrial encephalomyopathies in two Italian siblings. PMID: 23010432
8. X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the beta-subunit of succinyl-CoA synthetase (SUCLA2). PMID: 22740690
9. Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase. PMID: 19526370
10. Deficiency of SUCLA2 is associated with encephalomyopathy and mitochondrial DNA depletion. PMID: 15877282

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HGNC: 11448

OMIM: 603921

KEGG: hsa:8803

STRING: 9606.ENSP00000367923

UniGene: Hs.743361