Hermansky-Pudlak综合征蛋白3抗体
规格：1mg/1ml
英文名： HPS3
别名： Cocoa; DKFZp686F0413; FLJ22704; Hermansky Pudlak syndrome 3; Hermansky Pudlak syndrome 3 protein; SUTAL.
分子量： 114kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human HPS3
交叉反应：Human,
细胞定位：细胞浆
Hermansky-Pudlak综合征蛋白3抗体Hermansky-Pudlak综合征蛋白3抗体产品介绍：background: 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 maturationHermansky-Pudlak综合征蛋白3抗体. 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 Hermansky-Pudlak综合征蛋白3抗体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 Database links: Entrez Gene: 84343 Human Omim: 606118 Human SwissProt: Q969F9 Human Unigene: 591311 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Hermansky-Pudlak综合征蛋白3抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 **学 转运蛋白
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid