产品名称
Myosin VA Rabbit Polyclonal Antibody
别名
MYO5A; MYH12; Unconventional myosin-Va; Dilute myosin heavy chain; non-muscle; Myosin heavy chain 12; Myosin-12; Myoxin
蛋白名称
Unconventional myosin-Va
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=4644
Human Swissprot No.
Q9Y4I1
Human Swissprot Link
http://www.uniprot.org/uniprotkb/Q9Y4I1/entry
Mouse Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=17918
Mouse Swissprot No.
Q99104
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q99104
Rat Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=25017
Rat Swissprot Link
http://www.uniprot.org/uniprot/Q9QYF3
免疫原
The antiserum was produced against synthesized peptide derived from human MYO5A. AA range:1784-1833
特异性
Myosin VA Polyclonal Antibody detects endogenous levels of Myosin VA protein.
稀释度
WB 1:500-2000;IHC-p 1:50-300
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Detected in melanocytes.
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
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 mental retardation, without apparent immune abnormalities.,disease: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.,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.,online information:MYO5A mutation db,similarity:Contains 1 dilute domain.,similarity:Contains 1 myosin head-like domain.,similarity:Contains 6 IQ domains.,subunit:May be a homodimer, which associates with multiple calmodulin or myosin light chains. Binds MLPH and MYRIP.,tissue specificity:Detected in melanocytes.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.