产品名称
NPC2 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/10577
Human Swissprot No.
P61916
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P61916/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/67963
Mouse Swissprot No.
Q9Z0J0
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q9Z0J0
免疫原
Synthesized peptide derived from human NPC2 AA range: 9-59
特异性
This antibody detects endogenous levels of NPC2 at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Detected in gallbladder bile (PubMed:21315718). Detected in fibroblasts, kidney, liver, spleen, small intestine, placenta and testis (at protein level) (PubMed:11125141). Epididymis.
细胞定位
Secreted . Endoplasmic reticulum . Lysosome . Interaction with cell-surface M6PR mediates endocytosis and targeting to lysosomes. .
功能
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
