Synthesized peptide derived from human BL1S3 AA range: 142-192
储存条件:
-20°C/1 year
克隆性:
Polyclonal
抗体亚型:
IgG
浓度:
1 mg/ml
分子量:
22kD
基因ID:
388552
蛋白序列:
Q6QNY0
细胞定位:
Cytoplasm .
研究背景:
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],