Target：Myosin VA

Fields：Pathogenic Escherichia coli infection

Gene Name：MYO5A

Protein Name：Unconventional myosin-Va

Human Gene Id：4644

Human Swiss Prot No：Q9Y4I1

Mouse Gene Id：17918

Mouse Swiss Prot No：Q99104

Rat Gene Id：25017

Rat Swiss Prot No：Q9QYF3

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.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500-2000;IHC 1:50-300

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Other Name：MYO5A;MYH12;Unconventional myosin-Va;Dilute myosin heavy chain; non-muscle;Myosin heavy chain 12;Myosin-12;Myoxin

Observed Band(KD)：220kD

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

Subcellular Location：ruffle,photoreceptor outer segment,cytoplasm,lysosome,early endosome,late endosome,peroxisome,endoplasmic reticulum,Golgi apparatus,cytosol,intermediate filament,actin filament,membrane,myosin complex,gr

Expression：Detected in melanocytes.