SLC25A11 ist ein Gen, das durch das Symbol SLC25A11 kodiert wird. Es ist auch bekannt als: Mitochondrial 2-oxoglutarate/malate carrier protein; OGCP; Solute carrier family 25 member 11; SLC20A4. SLC25A11 hat eine Masse von 34.06kDa, eine Aminosäurelänge von 314, und ist an Paragangliomas 6 beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
Catalyzes the transport of 2-oxoglutarate across the inner mitochondrial membrane in an electroneutral exchange for malate or other dicarboxylic acids, and plays an important role in several metabolic processes, including the malate-aspartate shuttle, the oxoglutarate/isocitrate shuttle, in gluconeogenesis from lactate, and in nitrogen metabolism. Maintains mitochondrial fusion and fission events, and the organization and morphology of cristae (PubMed:21448454). Involved in the regulation of apoptosis (By similarity). Acts as a tumor-suppressor gene implicated in the predisposition to metastatic paraganglioma.
Entrez Zusammenfassung
The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992
Rolle bei Krankheiten
Paragangliomas 6: An autosomal dominant tumor predisposition syndrome characterized by adult-onset development of paragangliomas, neural crest tumors usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Some of the tumors may secrete biologically active normetanephrine, resulting in secondary hypertension. PGL6 patients are at high risk for metastatic disease.
Sequenzähnlichkeiten
Belongs to the mitochondrial carrier (TC 2.A.29) family.
Zellort
Mitochondrion inner membrane.
