SLC25A11
Function
Catalyzes the transport of 2-oxoglutarate (alpha-oxoglutarate) across the inner mitochondrial membrane in an electroneutral exchange for malate. Can also exchange 2-oxoglutarate for other dicarboxylic acids such as malonate, succinate, maleate and oxaloacetate, although with lower affinity. Contributes to several metabolic processes, including the malate-aspartate shuttle, the oxoglutarate/isocitrate shuttle, in gluconeogenesis from lactate, and in nitrogen metabolism (By similarity). Maintains mitochondrial fusion and fission events, and the organization and morphology of cristae (PubMed:21448454). Involved in the regulation of apoptosis (By similarity). Helps protect from cytotoxic-induced apoptosis by modulating glutathione levels in mitochondria (By similarity).
Involvement in disease
Pheochromocytoma/paraganglioma syndrome 6
PPGL6
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. PPGL6 inheritance is autosomal dominant.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the mitochondrial carrier (TC 2.A.29) family.
Tissue Specificity
Most highly expressed in the heart.
Cellular localization
- Mitochondrion inner membrane
- Multi-pass membrane protein
Alternative names
SLC20A4, SLC25A11, Mitochondrial 2-oxoglutarate/malate carrier protein, OGCP, alpha-oxoglutarate carrier, Solute carrier family 25 member 11