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This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in ten transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: AMPH 2; Amphiphysin II; amphiphysin-like; Amphiphysin-like protein; box dependant MYC interacting protein 1; Box-dependent myc-interacting protein 1; Bridging integrator 1; DKFZp547F068; MGC10367; MGC105358; Myc box-dependent-interacting protein 1
基因别名: AMPH2; AMPHL; BIN1; SH3P9
UniProt ID: (Human) O00499
Entrez Gene ID: (Human) 274