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Official Full Name
filamin B, beta
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.
Synonyms
FLNB; filamin B, beta; filamin B, beta (actin binding protein 278) , FLN1L, Larsen syndrome 1 (autosomal dominant) , LRS1; filamin-B; ABP 278; actin binding protein 278; FH1; TABP; TAP; ABP 280 homolog; ABP278; Actin binding like protein; AOI; Beta filamin; DKFZp686A1668; DKFZp686O033; Filamin 1 actin binding protein 280 like; Filamin 3; Filamin B; Filamin B beta actin binding protein 278; Filamin homolog 1; FLN B; FLN1L; FLN3; LRS1; SCT; Thyroid autoantigen; Truncated ABP; Truncated actin binding protein; filamin-3; beta-filamin; ABP-280 homolog; actin-binding-like protein; Larsen syndrome 1 (autosomal dominant); FLN-B; ABP-278; ABP-280; retina filamin; filamin B, beta (actin binding protein 278)

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