Hermansky-Pudlak综合征蛋白5抗体
规格：1mg/1ml
英文名： HPS5
别名： AIBP63; HPS5_HUMAN; Alpha integrin binding protein 63; Hermansky Pudlak syndrome 5 protein; Ru2; Ruby eye protein 2 homolog.
分子量： 127kDa
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 HPS5
交叉反应：Human, Mouse, Rat, Horse, Sheep,
细胞定位：
Hermansky-Pudlak综合征蛋白5抗体产品介绍：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 biogenesisHermansky-Pudlak综合征蛋白5抗体 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)Hermansky-Pudlak综合征蛋白5抗体 [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. Gene ID: 11234 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.
Hermansky-Pudlak综合征蛋白5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 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