DLST
Function
Dihydrolipoamide succinyltransferase (E2) component of the 2-oxoglutarate dehydrogenase complex. The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711, PubMed:30929736). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711).
Involvement in disease
Pheochromocytoma/paraganglioma syndrome 7
PPGL7
A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL7 tumors are generally benign, tend to be abdominal, and often secrete normetanephrine. PPGL7 inheritance is autosomal dominant.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Pathway
Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 6/6.
Carbohydrate metabolism; tricarboxylic acid cycle.
Sequence Similarities
Belongs to the 2-oxoacid dehydrogenase family.
Cellular localization
- Mitochondrion matrix
- Nucleus
- Mainly localizes in the mitochondrion. A small fraction localizes to the nucleus, where the 2-oxoglutarate dehydrogenase complex is required for histone succinylation.
Alternative names
DLTS, DLST, 2-oxoglutarate dehydrogenase complex component E2, Dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex, E2K, OGDC-E2