基因名:
FLNB
产品别名:
ABP-278; ABP-280; AOI; FH1; FLN-B; FLN1L; LRS1; SCT; TABP; TAP; FLNB; filamin B; filamin B; filamin-B; ABP-280 homolog; Larsen syndrome 1 (autosomal dominant); actin binding protein 278; actin-binding-like protein; beta-filamin; filamin B, beta; filamin homolog 1; filamin-3; thyroid autoantigen; 丝蛋白Bβ(FLNb); 细丝蛋白3;
背景信息:
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].