• 靶点：
• Filamin 1

• 简介：
• >>MAPK signaling pathway;>>Focal adhesion;>>Salmonella infection;>>Proteoglycans in cancer

• 基因名称：
• FLNA

• 蛋白名称：
• Filamin-A

• Human Gene Id：
• 2316

• Human Swiss Prot No：
• P21333

• Mouse Gene Id：
• 192176

• Mouse Swiss Prot No：
• Q8BTM8

• 特异性：
• endogenous

• 组成：
• PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA

• 来源：
• Monoclonal, rabbit, IgG, Kappa

• 稀释：
• IHC 1:4000-1:10000,WB 1:1000-1:5000,IF 1:200-1:1000,ELISA 1:5000-1:20000,IP 1:50-1:200,

• 纯化工艺：
• Protein A

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 其他名称：
• FLNA;FLN;FLN1;Filamin-A;FLN-A;Actin-binding protein 280;ABP-280;Alpha-filamin;Endothelial actin-binding protein;Filamin-1;Non-muscle filamin

• 分子量：
• 281kD

• 实测条带：
• 281kD

• 背景：
• filamin A(FLNA) Homo sapiens The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009],

• 功能：
• disease:Defects in FLNA are associated with cerebrofrontofacial syndrome [MIM:608578]. This syndrome consists of a phenotype of male PVNH, with relatively normal development, no epilepsy or other neurological abnormality, severe constipation, and facial dysmorphism and without a discernible skeletal phenotype.,disease:Defects in FLNA are the cause of frontometaphyseal dysplasia (FMD) [MIM:305620]. FMD is a congenital bone disease characterized by supraorbital hyperostosis, deafness and digital anomalies.,disease:Defects in FLNA are the cause of Melnick-Needles syndrome (MNS) [MIM:309350]. MNS is a severe congenital bone disorder characterized by typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull.,disease:Defects i

• 细胞定位：
• Cytoplasm

• 组织表达：
• Ubiquitous.

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