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Beschreibung

Menin (UniProt O00255) is a nuclear protein encoded by the MEN1 gene (also known as MEAI, SCG2) (Gene ID 4221) in human. MEN1 is a tumor suppressor gene frequently mutated in the familial multiple endocrine neoplasia type I (MEN-1) cancer syndrome characterized by tumors in multiple endocrine organs including the parathyroid, pancreatic islets, and the pituitary. Menin mediates cell proliferation and differentiation actions of transforming growth factor-beta (TGF-beta) ligand family members. Menin is reported to associate with histone methyltransferases (HMT) MLL1 (KMT2A) and MLL4 (KMT2B) to form menin-HMT complexes in both human and murine model systems. In addition, menin is also shown to be involved in DNA repair with FANCD2.