Cloned (Comment) | Organism |
---|---|
gene SUCLA2, DNA and amino acid sequence determination and analysis, semi quantitative RT-PCR expression analysis | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | the GDP-dependent isozyme SUCLG2, EC 6.2.1.5, can complement the SUCLA2-related mitochondrial DNA depletion syndrome, a result of mutations in the beta subunit of the ADP-dependent isoform SUCLA2, EC 6.2.1.4 | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene SUCLA2 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | primary | Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
SCS | - |
Homo sapiens |
succinyl-CoA synthase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | deficiency of SUCLA2 results in Leigh's or a Leigh-like syndrome with onset of severe hypotonia in early infancy, severemuscular atrophy, and sensorineural hearing impairment. SUCLA2-related mitochondrial DNA depletion syndrome is a result of mutations in the beta subunit of the ADP-dependent isoform of the Krebs cycle succinyl-CoA synthase, phenotype, overview | Homo sapiens |
additional information | the GDP-dependent isozyme SUCLG2, EC 6.2.1.5, can complement the SUCLA2-related mitochondrial DNA depletion syndrome | Homo sapiens |
physiological function | SUCLG2, EC 6.2.1.5, to a higher degree than SUCLA2, is crucial for mtDNA maintenance involving mitochondrial NDPK | Homo sapiens |