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Beschreibung

Myc box-dependent-interacting protein 1 (UniProt: O00499, also known as Amphiphysin II, Amphiphysin-like protein, Box-dependent myc-interacting protein 1, Bridging integrator 1) is encoded by the BIN1 (also known as AMPHL) gene (Gene ID: 274) in human. Bin1 is a ubiquitous protein that displays highest expression levels in the brain and muscle. Eleven isoforms of Bin1 have been described that are generated by alternate splicing. Isoform IIA is reported to be expressed only in the brain where it is concentrated n axon initial segments and nodes of Ranvier. It contains one BAR domain (aa 29-276) and one SH3 domain (aa 520-592). Bin1 interacts with the functionally critical Myc box regions at the N- terminus of the MYC oncoprotein and inhibits MYC-induced malignant cell transformation. Hence, it is considered as a tumor suppressor. Mutations in BIN1 gene are known to cause centronuclear myopathy that is characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles.