BIN1 Antibody – Mouse Monoclonal

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: Tumor suppressor; Cytoskeletal; Adaptor/scaffold; Vesicle

Chromosomal Location of Human Ortholog: 2q14

Cellular Component: I band; synaptic vesicle; membrane; axon; T-tubule; cytoplasm; 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; positive regulation of endocytosis; endocytosis; positive regulation of GTPase activity; positive regulation of astrocyte differentiation

Disease: Myopathy, Centronuclear, 2