| 產(chǎn)品編號 | bs-17381R |
| 英文名稱 | Rabbit Anti-HPS3 antibody |
| 中文名稱 | Hermansky-Pudlak綜合征蛋白3抗體 |
| 別 名 | Cocoa; DKFZp686F0413; FLJ22704; Hermansky Pudlak syndrome 3; Hermansky Pudlak syndrome 3 protein; SUTAL. |
| 研究領(lǐng)域 | 細(xì)胞生物 免疫學(xué) 轉(zhuǎn)運(yùn)蛋白 |
| 抗體來源 | Rabbit |
| 克隆類型 | Polyclonal |
| 交叉反應(yīng) | (predicted: Human,Mouse,Rat,Rabbit,Pig,Sheep,Cow,Dog,Horse) |
| 產(chǎn)品應(yīng)用 | ELISA=1:5000-10000
not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 理論分子量 | 114kDa |
| 細(xì)胞定位 | 細(xì)胞漿 |
| 性 狀 | Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human HPS3: 561-660/1004 |
| 亞 型 | IgG |
| 純化方法 | affinity purified by Protein A |
| 緩 沖 液 | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| 保存條件 | Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles. |
| 注意事項(xiàng) | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| PubMed | PubMed |
| 產(chǎn)品介紹 |
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008] Function: HPS3 is involved in early stages of melanosome biogenesis and maturation. Defects in HPS3 are the cause of the cocoa (coa) mutant, and of Hermansky-Pudlak syndrome type 3 (HPS3). HPS3 is an 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. Subcellular Location: Cytoplasmic SWISS: Q969F9 Gene ID: 84343 Database links: Entrez Gene: 84343 Human Omim: 606118 Human SwissProt: Q969F9 Human Unigene: 591311 Human |
