Hermansky-Pudlak综合征蛋白6抗体
规格：1mg/1ml
英文名： HPS6
别名： FLJ22501; Hermansky Pudlak syndrome 6 protein; Hermansky-Pudlak syndrome 6 protein; HPS6; HPS6_HUMAN; MGC20522; Ru; Ruby eye protein homolog; Ruby-eye protein homolog.
分子量： 83kDa
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 HPS6
交叉反应：Human,
细胞定位：细胞浆
Hermansky-Pudlak综合征蛋白6抗体产品介绍：background: This intronless 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 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008] Function: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Subcellular Location: Microsome membrane. Cytoplasm > cytosol. Early endosome membrane. Tissue Specificity: Ubiquitous. DISEASE: Defects in HPS6 are Hermansky-Pudlak综合征蛋白6抗体the cause of Hermansky-Pudlak syndrome type 6 (HPS6) [MIM:614075]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, 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,Hermansky-Pudlak综合征蛋白6抗体 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. Database links: Entrez Gene: 79803 Human Omim: 607522 Human SwissProt: Q86YV9 Human Unigene: 125133 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6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：**学 信号转导 结合蛋白
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid