Filamin 1 Polyclonal Antibody

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商品货号： PLA015947

适应性： 人,小鼠,大鼠

￥600元

规格：

40μL 100μL 200μL

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MSDS

说明书

商品描述

基因名称： FLNA
蛋白名称： Filamin-A
Human_gene_id： 2316
Human_gene_link： http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2316
Human_swiss_prot_no： P21333
Human_swiss_link： http://www.uniprot.org/uniprotkb/P21333/entry
Mouse_gene_id： 192176
Mouse_gene_link： http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=192176
Mouse_swiss_prot_no： Q8BTM8
Mouse_swiss_link： http://www.uniprot.org/uniprot/Q8BTM8
特异性： Filamin 1 Polyclonal Antibody detects endogenous levels of Filamin 1 protein.
组成： Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
来源： Polyclonal, Rabbit,IgG
稀释： WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:10000.. IF 1:50-200
纯化工艺： The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
浓度： 1 mg/ml
储存： -15°C to -25°C/1 year(Do not lower than -25°C)
说明书： 1
Msds： MSDS_Antibody.pdf
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
实测条带： 280kD
信号通路： MAPK_ERK_Growth;MAPK_G_Protein;Focal adhesion;
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 in FLNA are the cause of otopalatodigital syndrome type 1 (OPD1) [MIM:311300]. OPD1 is an X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild mental retardation, hearing loss, cleft palate, and typical facial anomalies. OPD1 belongs to a group of X-linked skeletal dysplasias known as oto-palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. FLNA is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. Males with OPD1 have cleft palate, malformations of the ossicles causing deafness and milder bone and limb defects than those associated with OPD2. Obligate female carriers of mutations causing both OPD1 and OPD2 have variable (often milder) expression of a similar phenotypic spectrum.,disease:Defects in FLNA are the cause of otopalatodigital syndrome type 2 (OPD2) [MIM:304120]; also known as cranioorodigital syndrome. OPD2 is a congenital bone disorder that is characterized by abnormally modeled, bowed bones, small or absent first digits and, more variably, cleft palate, posterior fossa brain anomalies, omphalocele and cardiac defects.,disease:Defects in FLNA are the cause of periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]; also called nodular heterotopia, bilateral periventricular (NHBP or BPNH). PVNH is a developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period.,disease:Defects in FLNA are the cause of periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537]; also known as periventricular heterotopia Ehlers-Danlos variant. PVNH4 is characterized by nodular brain heterotopia, joint hypermobility and development of aortic dilatation in early adulthood.,disease:Defects in FLNA are the cause of X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX) [MIM:300048]. CIIPX is characterized by a severe abnormality of gastrointestinal motility due to primary qualitative defects of enteric ganglia and nerve fibers. Affected individuals manifest recurrent signs of intestinal obstruction in the absence of any mechanical lesion.,domain:Comprised of a NH2-terminal actin-binding domain, 24 internally homologous repeats and two hinge regions. Repeat 24 and the second hinge domain are important for dimer formation.,function:Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface-localized furin, modulates its rate of internalization and directs its intracellular trafficking.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity). Phosphorylation extent changes in response to cell activation.,PTM:The N-terminus is blocked.,similarity:Belongs to the filamin family.,similarity:Contains 1 actin-binding domain.,similarity:Contains 2 CH (calponin-homology) domains.,similarity:Contains 24 filamin repeats.,subunit:Interacts with PDLIM2 (By similarity). Homodimer. Interacts with FCGR1A, FLNB, FURIN, HSPB7, INPPL1, KCND2, MYOT, MYOZ1, ARHGAP24, PSEN1, PSEN2 and ECSCR. Interacts also with various other binding partners in addition to filamentous actin.,tissue specificity:Ubiquitous.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, cell cortex . Cytoplasm, cytoskeleton . Perikaryon . Cell projection, growth cone . Colocalizes with CPMR1 in the central region of DRG neuron growth cone (By similarity). Following SEMA3A stimulation of DRG neurons, colocalizes with F-actin (By similarity). .
组织表达： Ubiquitous.
tag： hot
科研货号： PLA015947

Filamin 1 Polyclonal Antibody

Catalog No PLA015947

Product information

基因名称： FLNA
蛋白名称： Filamin-A
Human_gene_id： 2316
Human_gene_link： http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2316
Human_swiss_prot_no： P21333
Human_swiss_link： http://www.uniprot.org/uniprotkb/P21333/entry
Mouse_gene_id： 192176
Mouse_gene_link： http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=192176
Mouse_swiss_prot_no： Q8BTM8
Mouse_swiss_link： http://www.uniprot.org/uniprot/Q8BTM8
特异性： Filamin 1 Polyclonal Antibody detects endogenous levels of Filamin 1 protein.
组成： Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
来源： Polyclonal, Rabbit,IgG
稀释： WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:10000.. IF 1:50-200
纯化工艺： The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
浓度： 1 mg/ml
储存： -15°C to -25°C/1 year(Do not lower than -25°C)
说明书： 1
Msds： MSDS_Antibody.pdf
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
实测条带： 280kD
信号通路： MAPK_ERK_Growth;MAPK_G_Protein;Focal adhesion;
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 in FLNA are the cause of otopalatodigital syndrome type 1 (OPD1) [MIM:311300]. OPD1 is an X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild mental retardation, hearing loss, cleft palate, and typical facial anomalies. OPD1 belongs to a group of X-linked skeletal dysplasias known as oto-palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. FLNA is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. Males with OPD1 have cleft palate, malformations of the ossicles causing deafness and milder bone and limb defects than those associated with OPD2. Obligate female carriers of mutations causing both OPD1 and OPD2 have variable (often milder) expression of a similar phenotypic spectrum.,disease:Defects in FLNA are the cause of otopalatodigital syndrome type 2 (OPD2) [MIM:304120]; also known as cranioorodigital syndrome. OPD2 is a congenital bone disorder that is characterized by abnormally modeled, bowed bones, small or absent first digits and, more variably, cleft palate, posterior fossa brain anomalies, omphalocele and cardiac defects.,disease:Defects in FLNA are the cause of periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]; also called nodular heterotopia, bilateral periventricular (NHBP or BPNH). PVNH is a developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period.,disease:Defects in FLNA are the cause of periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537]; also known as periventricular heterotopia Ehlers-Danlos variant. PVNH4 is characterized by nodular brain heterotopia, joint hypermobility and development of aortic dilatation in early adulthood.,disease:Defects in FLNA are the cause of X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX) [MIM:300048]. CIIPX is characterized by a severe abnormality of gastrointestinal motility due to primary qualitative defects of enteric ganglia and nerve fibers. Affected individuals manifest recurrent signs of intestinal obstruction in the absence of any mechanical lesion.,domain:Comprised of a NH2-terminal actin-binding domain, 24 internally homologous repeats and two hinge regions. Repeat 24 and the second hinge domain are important for dimer formation.,function:Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface-localized furin, modulates its rate of internalization and directs its intracellular trafficking.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity). Phosphorylation extent changes in response to cell activation.,PTM:The N-terminus is blocked.,similarity:Belongs to the filamin family.,similarity:Contains 1 actin-binding domain.,similarity:Contains 2 CH (calponin-homology) domains.,similarity:Contains 24 filamin repeats.,subunit:Interacts with PDLIM2 (By similarity). Homodimer. Interacts with FCGR1A, FLNB, FURIN, HSPB7, INPPL1, KCND2, MYOT, MYOZ1, ARHGAP24, PSEN1, PSEN2 and ECSCR. Interacts also with various other binding partners in addition to filamentous actin.,tissue specificity:Ubiquitous.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, cell cortex . Cytoplasm, cytoskeleton . Perikaryon . Cell projection, growth cone . Colocalizes with CPMR1 in the central region of DRG neuron growth cone (By similarity). Following SEMA3A stimulation of DRG neurons, colocalizes with F-actin (By similarity). .
组织表达： Ubiquitous.
tag： hot
科研货号： PLA015947

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