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Rabbit Anti-HPS5/FITC Conjugated antibody (bs-17383R-FITC)
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說 明 書: 100ul  
100ul/2980.00元
大包裝/詢價
產品編號 bs-17383R-FITC
英文名稱 Rabbit Anti-HPS5/FITC Conjugated antibody
中文名稱 FITC標記的Hermansky-Pudlak綜合征蛋白5抗體
別    名 AIBP63; HPS5_HUMAN; Alpha integrin binding protein 63; Hermansky Pudlak syndrome 5 protein; Ru2; Ruby eye protein 2 homolog.  
規格價格 100ul/2980元 購買        大包裝/詢價
說 明 書 100ul  
研究領域 細胞生物  信號轉導  結合蛋白  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 Mouse,  (predicted: Human, Rat, Horse, Sheep, )
產品應用 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 127kDa
性    狀 Lyophilized or Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human HPS5
亞    型 IgG
純化方法 affinity purified by Protein A
儲 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存條件 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.
產品介紹 background:
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Function:
HPS5 may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. HPS5 interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin alpha 3. Mutations in HPS5 gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene.

Subunit:
Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Directly interacts with HPS6. May interact with all alpha-integrin chains that have an aromatic residue before the first lysine of the conserved KXGFFKR motif, including ITGA2, ITGA3, ITGA5 and ITGA6.

Subcellular Location:
Cytoplasm, cytosol.

Tissue Specificity:
Widely expressed. Isoform 1:Highly expressed in lungs and testis. Isoform 2:Highly expressed in placenta, kidney, testis ovary, lung and thymus.

DISEASE:
Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. Note=The disease is caused by mutations affecting the gene represented in this entry.

Similarity:
Belongs to the HPS5 family.

Database links:

Entrez Gene: 11234 Human

Omim: 607521 Human

SwissProt: Q9UPZ3 Human

Unigene: 437599 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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