免疫原
The antiserum was produced against synthesized peptide derived from human MYO5A. AA range:1784-1833
特异性
Myosin VA Monoclonal Antibody detects endogenous levels of Myosin VA protein.
组成（Formulation）
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺（Immunogen）
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景（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],
功能
disease:Defects in MYO5A are a cause of Elejalde syndrome [MIM:256710]; also known as neuroectodermal melanolysosomal disease. Elejalde syndrome is an autosomal 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 I.,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 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 ment
蛋白名称
Unconventional myosin-Va
其他名称
MYO5A; MYH12; Unconventional myosin-Va; Dilute myosin heavy chain; non-muscle; Myosin heavy chain 12; Myosin-12; Myoxin
Fields
>>Pathogenic Escherichia coli infection
细胞定位
ruffle,photoreceptor outer segment,cytoplasm,lysosome,early endosome,late endosome,peroxisome,endoplasmic reticulum,Golgi apparatus,cytosol,intermediate filament,actin filament,membrane,myosin complex,gr
组织表达
Detected in melanocytes.
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