Bridging Integrator 1 (BIN1) Antibody – Rabbit Polyclonal

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 several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]

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: Adaptor/scaffold; Cytoskeletal; Tumor suppressor; Vesicle

Chromosomal Location of Human Ortholog: 2q14.3

Cellular Component: actin cytoskeleton; axon; cytoplasm; I band; membrane; T-tubule; Z disc

Molecular Function: actin filament binding; identical protein binding; protein binding; tau protein binding

Biological Process: cell proliferation; nuclear organization and biogenesis; positive regulation of apoptosis; positive regulation of astrocyte differentiation; regulation of neuron differentiation

Disease: Myopathy, Centronuclear, 2