Reactive species
Human; Mouse
Antibody type
Polyclonal Antibody
Immunogen
Synthesized peptide derived from human NPC2 AA range: 9-59
Specificity
This antibody detects endogenous levels of NPC2 at Human/Mouse
Constitute
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source
Polyclonal, Rabbit,IgG
Dilution rate
WB 1:500-2000
Purification process
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008],
Function
disease:Defects in NPC2 are the cause of Niemann-Pick disease type C2 (NPC2) [MIM:607625]. NPC2 is a fatal autosomal recessive hereditary disease characterized by the accumulation of low-density lipoprotein-derived cholesterol in lysosomes.,function:May be involved in the regulation of the lipid composition of sperm membranes during the maturation in the epididymis.,similarity:Belongs to the NPC2 family.,tissue specificity:Epididymis.,