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Rabbit Anti-Melanophilin/BF350 Conjugated antibody (bs-18784R-BF350)
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说 明 书: 100ul  
100ul/2980.00元
大包装/询价
产品编号 bs-18784R-BF350
英文名称 Rabbit Anti-Melanophilin/BF350 Conjugated antibody
中文名称 BF350标记的黑色素亲和素抗体
别    名 2210418F23Rik; 5031433I09Rik; AW228792; D1Wsu84e; Exophilin 3; Exophilin-3; l(1)-3Rk; l1Rk3; Leaden; Leaden protein; ln; Melanophilin; MELPH_HUMAN; MGC2771; MGC59733; Mlph; Slac 2a; SlaC2-a; Slp homolog lacking C2 domains a; Synaptotagmin like protein 2a; Synaptotagmin like protein lacking C2 domains A; Synaptotagmin-like protein 2a.  
规格价格 100ul/2980元 购买        大包装/询价
说 明 书 100ul  
研究领域 细胞生物  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, )
产品应用 ICC=1:50-200 IF=1:50-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 66kDa
性    状 Lyophilized or Liquid
浓    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human Melanophilin
亚    型 IgG
纯化方法 affinity purified by Protein A
储 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol
保存条件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
产品介绍 background:
This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

Function:
Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.

Subcellular Location:
Cytoplasm.

DISEASE:
Defects in MLPH are a cause of Griscelli syndrome type 3 (GS3) [MIM:609227]. GS3 is a rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations.

Similarity:
Contains 1 FYVE-type zinc finger.
Contains 1 RabBD (Rab-binding) domain.

Database links:

Entrez Gene: 79083 Human

Omim: 606526 Human

SwissProt: Q9BV36 Human

Unigene: 102406 Human



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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