Molecular weight (DA)
220kD
Immunogen
The antiserum was produced against synthesized peptide derived from human MYO5A. AA range:1784-1833
Specificity
Myosin VA Polyclonal Antibody detects endogenous levels of Myosin VA protein.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1:500-2000;IHC-p 1:50-300
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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
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
Protein name
Unconventional myosin-Va
Other name
MYO5A; MYH12; Unconventional myosin-Va; Dilute myosin heavy chain; non-muscle; Myosin heavy chain 12; Myosin-12; Myoxin
Fields
>>Pathogenic Escherichia coli infection
Human protein sequence Database
Q9Y4I1
Mouse protein sequence database
Q99104
Rat protein sequence database
Q9QYF3
Cellular localization
ruffle,photoreceptor outer segment,cytoplasm,lysosome,early endosome,late endosome,peroxisome,endoplasmic reticulum,Golgi apparatus,cytosol,intermediate filament,actin filament,membrane,myosin complex,gr
Tissue expression
Detected in melanocytes.
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