Name: Anti-NPC2 Antibody (CAB5413)
Brand: Metabolism Antibodies 2
SKU: CAB5413
Availability: OutOfStock

Antibody Name:	Anti-NPC2 Antibody
Antibody SKU:	CAB5413
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IHC
Reactivity:	Human, Mouse
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 20-151 of human NPC2 (NP_006423.1).

Application:	WB IHC
Recommended Dilution:	WB 1:500 - 1:2000 IHC 1:50 - 1:200
Reactivity:	Human, Mouse
Positive Samples:	Mouse lung

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 20-151 of human NPC2 (NP_006423.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	EPVQ FKDC GSVD GVIK EVNV SPCP TQPC QLSK GQSY SVNV TFTS NIQS KSSK AVVH GILM GVPV PFPI PEPD GCKS GINC PIQK DKTY SYLN KLPV KSEY PSIK LVVE WQLQ DDKN QSLF CWEI PVQI VSHL
Gene ID:	10577
Uniprot:	P61916
Cellular Location:	Endoplasmic reticulum, Lysosome, Secreted
Calculated MW:	13kDa/16kDa
Observed MW:	19kDa

Synonyms:	NPC2, EDDM1, HE1
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.

UniProt Protein Function:	NPC2: Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular 'tag team duo' (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and is exported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknown mechanism. The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport. Defects in NPC2 are the cause of Niemann-Pick disease type C2 (NPDC2). 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. Belongs to the NPC2 family.
UniProt Protein Details:	Protein type:Secreted, signal peptide; Secreted Chromosomal Location of Human Ortholog: 14q24.3 Cellular Component: endoplasmic reticulum; lysosome Molecular Function:protein binding; enzyme binding; cholesterol binding Biological Process: cholesterol metabolic process; cholesterol homeostasis; cholesterol transport; intracellular sterol transport; regulation of isoprenoid metabolic process; response to virus; cholesterol efflux; phospholipid transport; intracellular cholesterol transport; glycolipid transport Disease: Niemann-pick Disease, Type C2
NCBI Summary:	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]
UniProt Code:	P61916
NCBI GenInfo Identifier:	48429027
NCBI Gene ID:	10577
NCBI Accession:	P61916.1
UniProt Secondary Accession:	P61916,Q15668, Q29413, B4DQV7,
UniProt Related Accession:	P61916
Molecular Weight:	151
NCBI Full Name:	Epididymal secretory protein E1
NCBI Synonym Full Names:	Niemann-Pick disease, type C2
NCBI Official Symbol:	NPC2
NCBI Official Synonym Symbols:	HE1; EDDM1
NCBI Protein Information:	epididymal secretory protein E1; epididymal protein 1; tissue-specific secretory protein; human epididymis-specific protein 1; Niemann-Pick disease type C2 protein
UniProt Protein Name:	Epididymal secretory protein E1
UniProt Synonym Protein Names:	Human epididymis-specific protein 1; He1; Niemann-Pick disease type C2 protein
Protein Family:	Non-specific phospholipase
UniProt Gene Name:	NPC2
UniProt Entry Name:	NPC2_HUMAN

	Western blot analysis of extracts of mouse lung, using NPC2 antibody (CAB5413) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 90s.
	Immunohistochemistry of paraffin-embedded human liver damage using NPC2 Antibody (CAB5413) at dilution of 1:100 (40x lens).
	Immunohistochemistry of paraffin-embedded human esophagus using NPC2 Antibody (CAB5413) at dilution of 1:100 (40x lens).
	Immunohistochemistry of paraffin-embedded mouse lung using NPC2 Antibody (CAB5413) at dilution of 1:100 (40x lens).