Recombinant Human Filamin-B (FLNB), Truncated

Uniprot Id

O75369

Target Species

Human

Target Name

FLNB

Target Full Name

Filamin-B

Target Function

Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoform 6 accelerates muscle differentiation in vitro.

Target Involvement

Atelosteogenesis 1 (AO1); Atelosteogenesis 3 (AO3); Boomerang dysplasia (BOOMD); Larsen syndrome (LRS); Spondylocarpotarsal synostosis syndrome (SCT)

Target Subcellular Location

[Isoform 1]: Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, stress fiber. Cytoplasm, myofibril, sarcomere, Z line. Note=In differentiating myotubes, isoform 1, isoform 2 and isoform 3 are localized diffusely throughout the cytoplasm with regions of enrichment at the longitudinal actin stress fiber. In differentiated tubes, isoform 1 is also detected within the Z-lines.; [Isoform 2]: Cytoplasm, cytoskeleton, stress fiber.; [Isoform 3]: Cytoplasm, cytoskeleton, stress fiber.; [Isoform 6]: Cytoplasm, cytoskeleton. Note=Polarized at the periphery of myotubes.

Target Protein Families

Filamin family

Target Tissue Specificity

Ubiquitous. Isoform 1 and isoform 2 are expressed in placenta, bone marrow, brain, umbilical vein endothelial cells (HUVEC), retina and skeletal muscle. Isoform 1 is predominantly expressed in prostate, uterus, liver, thyroid, stomach, lymph node, small i

Target Synonyms

ABP 278; ABP 280 homolog; ABP-278; ABP-280 homolog; ABP278; Actin binding like protein ; Actin binding protein 278; Actin-binding-like protein; AOI; Beta filamin; Beta-filamin; DKFZp686A1668; DKFZp686O033; Fh1; Filamin 1 actin binding protein 280 like ; Filamin 3 ; Filamin B; Filamin B beta actin binding protein 278; Filamin homolog 1; Filamin-3; Filamin-B; FLN B; FLN-B; FLN1L; FLN3; FLNB; FLNB_HUMAN; LRS1; SCT; TABP; TAP; Thyroid autoantigen; Truncated ABP; Truncated actin binding protein ; Truncated actin-binding protein

Target Background

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.