产品名称
BL1S3 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/388552
Human Swissprot No.
Q6QNY0
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q6QNY0/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/232946
Mouse Swissprot No.
Q5U5M8
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q5U5M8
免疫原
Synthesized peptide derived from human BL1S3 AA range: 142-192
特异性
This antibody detects endogenous levels of BL1S3 at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008],
功能
disease:Defects in BLOC1S3 are the cause of Hermansky-Pudlak syndrome type 8 (HPS8) [MIM:203300]. 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, 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.,function:May play a role in the biogenesis of melanosomes and other specialized organelles of the endosomal-lysosomal system.,PTM:Phosphorylated.,similarity:Belongs to the BLOC1S3 family.,subunit:Component of the biogenesis of lysosome-related organelles (BLOC-1) complex which is composed of BLOC1S1, BLOC1S2, DTNBP1, MUTED, PLDN, CNO/cappuccino and SNAPAP. Interacts directly with BLOC1S2.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.