BIN1 Antibody – Mouse Monoclonal

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. [provided by RefSeq, Sep 2011]

BIN1: May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and inhibits malignant cell transformation. Defects in BIN1 are the cause of centronuclear myopathy type 2 (CNM2). A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. 11 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytoskeletal; Vesicle; Adaptor/scaffold; Tumor suppressor

Chromosomal Location of Human Ortholog: 2q14

Cellular Component: I band; synaptic vesicle; membrane; axon; cytoplasm; T-tubule; nerve terminal; Z disc; nucleus; actin cytoskeleton

Molecular Function: identical protein binding; protein binding; GTPase binding; protein heterodimerization activity; protein complex binding; tau protein binding

Biological Process: cell proliferation; muscle cell differentiation; viral reproduction; regulation of neuron differentiation; positive regulation of apoptosis; endocytosis; positive regulation of endocytosis; positive regulation of astrocyte differentiation; positive regulation of GTPase activity

Disease: Myopathy, Centronuclear, 2