FLNB Antibody – Goat Polyclonal

This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]

FLNB: a ubiquitous cytoskeletal protein that links actin filaments to membrane glycoproteins. Six alternatively spliced isoforms have been described. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoforms 1 and 2 are expressed in placenta, bone marrow, brain, umbilical vein endothelial cells, retina and skeletal muscle. Isoform 1 is predominantly expressed in prostate, uterus, liver, thyroid, stomach, lymph node, small intestine, spleen, skeletal muscle, kidney, placenta, pancreas, heart, lung, platelets, endothelial cells, megakaryocytic and erythroleukemic cell lines. Isoform 2 is predominantly expressed in spinal cord and platelets. Also expressed in thyroid adenoma, neurofibrillary tangles (NFT), senile plaques in the hippocampus and cerebral cortex in Alzheimer's disease. Isoform 3 and isoform 6 are expressed predominantly in lung, heart, skeletal muscle, testis, spleen, thymus and leukocytes. Isoform 4 and isoform 5 are expressed in heart.

Protein type: Motility/polarity/chemotaxis; Actin-binding

Chromosomal Location of Human Ortholog: 3p14.3

Cellular Component: actin cytoskeleton; brush border; cell cortex; cytoplasm; cytosol; focal adhesion; integral to membrane; plasma membrane; stress fiber; Z disc

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

Biological Process: actin cytoskeleton organization and biogenesis; cytoskeletal anchoring; signal transduction; skeletal muscle development

Disease: Atelosteogenesis, Type I; Atelosteogenesis, Type Iii; Boomerang Dysplasia; Larsen Syndrome; Spondylocarpotarsal Synostosis Syndrome