肌球蛋白5A抗体
规格：1mg/1ml
英文名： MYO5A
别名： Dilute myosin heavy chain; GS1; MYH12; MYO5; Myo5a; MYO5A_HUMAN; Myosin heavy chain 12; Myosin heavy polypeptide kinase; Myosin V; Myosin VA (heavy polypeptide 12 myoxin); Myosin-12; Myosin-Va; Myoxin
分子量： 200kDa
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 MYO5A
交叉反应：Human, Mouse, Rat, Chicken, Pig,
细胞定位：细胞浆
肌球蛋白5A抗体产品介绍：background: This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008] Function: Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. May also be required for some polarization process involved in dendrite formation. Tissue Specificity: Detected in melanocytes. DISEASE: Defects in MYO5A are a cause of Griscelli syndrome type 1 (GS1) [MIM:214450]; also known as Griscelli syndrome with primary neurologic impairment. Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the肌球蛋白5A抗体 presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and mental retardation, without apparent immune abnormalities. Defects in MYO5A are a cause of Griscelli syndrome type 3 (GS3) [MIM:609227]. GS3 is characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes, without other clinical manifestations. Defects in MYO5A are a cause of Elejalde syndrome (ELEJAS) [MIM:256710]; also known as neuroectodermal melanolysosomal disease. Elejalde syndrome is an autosomal 肌球蛋白5A抗体recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type 1. Similarity: Contains 1 dilute domain. Contains 6 IQ domains. Contains 1 myosin head-like domain. Database links: Entrez Gene: 4644 Human Entrez Gene: 17918 Mouse Entrez Gene: 594849 Pig Entrez Gene: 25017 Rat Omim: 160777 Human SwissProt: Q02440 Chicken SwissProt: Q9Y4I1 Human SwissProt: Q99104 Mouse SwissProt: Q9QYF3 Rat Unigene: 21213 Human Unigene: 596221 Human Unigene: 3645 Mouse Unigene: 44865 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
肌球蛋白5A抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 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.
研究领域：细胞生物 **学 神经生物学 信号转导
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid