产品货号 : mlR19207
英文名称 : Nesprin 1
中文名称 : 突触核膜蛋白1抗体
别 名 : CPG2; Enaptin; Myne-1; MYNE1; Myocyte nuclear envelope protein 1; Nesprin-1; Nuclear envelope spectrin repeat protein 1; SCAR8; Synaptic nuclear envelope protein 1; Syne-1; SYNE1; SYNE1_HUMAN; SYNE1B.
研究领域 : 心血管 细胞生物 神经生物学 细胞分化
抗体来源 : Rabbit
克隆类型 : Polyclonal
交叉反应 : Human, Mouse, Rat, Dog, Cow, Horse, Sheep,
产品应用 : ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 : 1010kDa
细胞定位 : 细胞浆
性 状 : Lyophilized or Liquid
浓 度 : 1mg/ml
免 疫 原 : KLH conjugated synthetic peptide derived from human Nesprin 1:51-150/8798
亚 型 : IgG
纯化方法 : affinity purified by Protein A
储 存 液 : 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件 : Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
PubMed : PubMed
产品介绍 : This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Function:
Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. Component of SUN-protein-containing multivariate complexes also called LINC complexes which link the nucleoskeleton and cytoskeleton by providing versatile outer nuclear membrane attachment sites for cytoskeletal filaments. Involved in the maintenance of nuclear organization and structural integrity. Connects nuclei to the cytoskeleton by interacting with the nuclear envelope and with F-actin in the cytoplasm. Required for centrosome migration to the apical cell surface during early ciliogenesis.
Subcellular Location:
Nucleus outer membrane. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere. The largest part of the protein is cytoplasmic, while its C-terminal part is associated with the nuclear envelope, most probably the outer nuclear membrane. In skeletal and smooth muscles, a significant amount is found in the sarcomeres.
Tissue Specificity:
Widely expressed. Highly expressed in skeletal and smooth muscles, heart, spleen, and peripheral blood leukocytes.
DISEASE:
Defects in SYNE1 are the cause of spinocerebellar ataxia autosomal recessive type 8 (SCAR8) [MIM:610743]; also known as autosomal recessive cerebellar ataxia type 1 (ARCA1) or recessive ataxia of Beauce. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form.
Defects in SYNE1 are the cause of Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998]. A degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
Similarity:
Belongs to the nesprin family.
Contains 1 actin-binding domain.
Contains 2 CH (calponin-homology) domains.
Contains 12 HAT repeats.
Contains 1 KASH domain.
Contains 31 spectrin repeats.
SWISS:
Q8NF91
Gene ID:
23345
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
