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Literature summary for 6.2.1.4 extracted from

  • Miller, C.; Wang, L.; Ostergaard, E.; Dan, P.; Saada, A.
    The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion (2011), Biochim. Biophys. Acta, 1812, 625-629.
    View publication on PubMed
Search for more literature for 6.2.1.4

Cloned(Commentary)

Cloned (Comment) Organism
gene SUCLA2, DNA and amino acid sequence determination and analysis, semi quantitative RT-PCR expression analysis Homo sapiens

Protein Variants

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

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
 Homo sapiens 5739
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 gene SUCLA2
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast primary Homo sapiens
-

Synonyms

Synonyms Comment Organism
SCS
-
 Homo sapiens
succinyl-CoA synthase
-
 Homo sapiens

General Information

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