The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 0.1 - 0.3 µg/ml. Detects a band of approximately 16 kDa (predicted molecular weight: 16 kDa).
功能May be involved in the regulation of the lipid composition of sperm membranes during the maturation in the epididymis.
疾病相关Defects in NPC2 are the cause of Niemann-Pick disease type C2 (NPDC2) [MIM:607625]. A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C2 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood.