Dysferlin蛋白抗体
规格：1mg/1ml
英文名： Dysferlin
别名： DMAT; DYSF; Dysferlin (Dystrophy associated fer 1 like protein) (Fer 1 like protein 1); Dysferlin limb girdle muscular dystrophy 2B (autosomal recessive); Dysferlin limb girdle muscular dystrophy 2B;
分子量： 237kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human Dysferli
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Guinea Pig,
细胞定位：细胞膜
产Dysferlin蛋白抗体品介绍：background: The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]. Function: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). Subunit: Interacts with CACNA1S. Interacts with ANXA1; the interaction is Ca(2+)- and injury state-dependent. Interacts with ANXA2; the interaction is Ca(2+)- and injury state-dependent. Interacts with CACNA1S and PARVB. Interacts with TRIM72/MG53; interaction is required for transport to sites of cell injury during repair patch formation (By similarity). Interacts with CAV3 and PARVB.Dysferlin蛋白抗体 Interacts with AHNAK; the interaction is direct and Ca(2+)-independent. Interacts with AHNAK2; the interaction is direct and Ca(2+)-independent. Subcellular Location: Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein (By similarity). Note=Colocalizes, during muscle differentiation, with BIN1 in the T-tubule system of myotubules and at the site of contact between two myotubes or a myoblast and a myotube. Wounding of myotubes led to its focal enrichment to the site of injury and to its relocalization in a Ca(2+)-dependent manner toward the plasma membrane. Colocalizes with AHNAK, AHNAK2 and PARVB at the sarcolemma of skeletal muscle. Detected on the apical plasma membrane of the syncytiotrophoblast. Reaches the plasmma membrane through a caveolin-independent mechanism. Retained by caveolin at the plasmma membrane (By similarity). Colocalizes, during muscle differentiation, with CACNA1S in the Dysferlin蛋白抗体T-tubule system of myotubules (By similarity). Accumulates and colocalizes with fusion vesicles at the sarcolemma disruption sites (By similarity). Tissue Specificity: Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine, placenta and at lower levels in liver, lung, kidney and pancreas. DISEASE: Defects in DYSF are the cause of limb-girdle muscular dystrophy type 2B (LGMD2B) . LGMD2B is an autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs. Similarity: Belongs to the ferlin family. Contains 5 C2 domains. Gene ID: 8291 Database links: Entrez Gene: 508157 Cow Entrez Gene: 483121 Dog Entrez Gene: 8291 Human Entrez Gene: 26903 Mouse Entrez Gene: 100174519 Orangutan Entrez Gene: 312492 Rat Omim: 603009 Human SwissProt: A6QQP7 Cow SwissProt: O75923 Human SwissProt: Q9ESD7 Mouse Unigene: 252180 Human Unigene: 220982 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. Dysferlin是与浆膜内环境有关的一种跨膜蛋白，与肌膜损伤的修复有关.
Dysferlin蛋白抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=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.
研究领域：**学 通道蛋白
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid