Protein: SUCB1_HUMAN
Succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial
PATHWAY: Carbohydrate metabolism; tricarboxylic acid cycle; succinate from succinyl-CoA (ligase route): step 1/1.
SUBUNIT: Heterodimer of an alpha and a beta subunit.
SUBCELLULAR LOCATION: Mitochondrion.
ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9P2R7-1; Sequence=Displayed; Name=2; IsoId=Q9P2R7-2; Sequence=VSP_006292; Note=No experimental confirmation available;
TISSUE SPECIFICITY: Widely expressed.
DISEASE: Defects in SUCLA2 are the cause of mitochondrial DNA depletion syndrome type 5 (MTDPS5) [MIM:612073]. A disorder characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria.
SIMILARITY: Belongs to the succinate/malate CoA ligase beta subunit family.
SIMILARITY: Contains 1 ATP-grasp domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SUCLA2";
COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
Organism:
- Homo sapiens
Gene Symbol:
- SUCLA2
Synonyms:
- ATP-specific succinyl-CoA synthetase subunit beta
- Succinyl-CoA synthetase beta-A chain
- SCS-betaA
- Renal carcinoma antigen NY-REN-39
- 6.2.1.5
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CATALYTIC ACTIVITY: ATP + succinate + CoA = ADP + phosphate + succinyl-CoA. more...