• 靶点：
• BL1S3

• 基因名称：
• BLOC1S3 BLOS3

• 蛋白名称：
• BL1S3

• Human Gene Id：
• 388552

• Human Swiss Prot No：
• Q6QNY0

• Mouse Gene Id：
• 232946

• Mouse Swiss Prot No：
• 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

• 组成：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• 来源：
• Polyclonal, Rabbit,IgG

• 稀释：
• WB 1：500-2000

• 纯化工艺：
• The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

• 浓度：
• 1 mg/ml

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 分子量：
• 22kD

• 背景：
• 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, MUTE

• 细胞定位：
• Cytoplasm .

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