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Rabbit Anti-MYO5A  antibody (bs-19173R)
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说明书: 50ul  100ul  200ul
50ul/1180.00元
100ul/1980.00元
200ul/2800.00元
大包装/询价
产品编号 bs-19173R
英文名称 MYO5A
中文名称 肌球蛋白5A抗体
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; MYR12; non-muscle.  
研究领域 细胞生物  免疫学  神经生物学  信号转导  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 (predicted: Human,Mouse,Rat,Chicken,Dog,Pig,Cow,Horse,Rabbit,Sheep)
产品应用 IHC-P=1:100-500, IHC-F=1:100-500, ICC=1:100-500, IF=1:100-500, ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理论分子量 215kDa
细胞定位 细胞浆 
性    状 Liquid
浓    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human MYO5A: 1301-1400/1855 
亚    型 IgG
纯化方法 affinity purified by Protein A
缓 冲 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件 Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
注意事项 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
产品介绍 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]

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 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 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.

SWISS:
Q9Y4I1

Gene ID:
4644

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



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