BIN1 disease associations
BIN1 [ENSP00000316779]
Myc box-dependent-interacting protein 1; Is a key player in the control of plasma membrane curvature, membrane shaping and membrane remodeling. Required in muscle cells for the formation of T-tubules, tubular invaginations of the plasma membrane that function in depolarization-contraction coupling . Is a negative regulator of endocytosis (By similarity). Is also involved in the regulation of intracellular vesicles sorting, modulation of BACE1 trafficking and the control of amyloid-beta production . In neuronal circuits, endocytosis regulation may influence the internalization of PHF-tau aggregates (By similarity). May be involved in the regulation of MYC activity and the control cell proliferation . Has actin bundling activity and stabilizes actin filaments against depolymerization in vitro . ECO:0000269|PubMed:27179792, ECO:0000269|PubMed:28893863,
Synonyms: BIN1, BIN1p, hBIN1, A0A024RAE9, A0A024RAF0 ...