BIN1 Antibody – Rabbit Polyclonal

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; Tumor suppressor; Vesicle; Cytoskeletal

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

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

Biological Process: muscle cell differentiation; positive regulation of apoptosis; regulation of neuron differentiation; multicellular organismal development; regulation of endocytosis; endocytosis; positive regulation of endocytosis; cell differentiation; positive regulation of GTPase activity; positive regulation of astrocyte differentiation