Product Information
86233-5-PBS targets NPC1 in WB, IF/ICC, Indirect ELISA applications and shows reactivity with human samples.
| Tested Reactivity | human |
| Host / Isotype | Rabbit / IgG |
| Class | Recombinant |
| Type | Antibody |
| Immunogen |
CatNo: Ag4946 Product name: Recombinant human NPC1 protein Source: e coli.-derived, PGEX-4T Tag: GST Domain: 23-266 aa of BC063302 Sequence: QSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELTCSPRQSQFLNVTATEDYVDPVTNQTKTNVKELQYYVGQGFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWTILGLD Predict reactive species |
| Full Name | Niemann-Pick disease, type C1 |
| Calculated Molecular Weight | 142 kDa |
| Observed Molecular Weight | 160-200 kDa |
| GenBank Accession Number | BC063302 |
| Gene Symbol | NPC1 |
| Gene ID (NCBI) | 4864 |
| RRID | AB_3744734 |
| Conjugate | Unconjugated |
| Form | Liquid |
| Purification Method | Protein A purification |
| UNIPROT ID | O15118 |
| Storage Buffer | PBS only, pH 7.3. |
| Storage Conditions | Store at -80°C. |
Background Information
Niemann-Pick Type C (NPC) disease is a lysosomal storage disorder characterized by the accumulation of unesterified cholesterol and other lipids in the endolysosomal system. NPC disease results from a defect in either of two distinct cholesterol-binding proteins: a transmembrane protein, NPC1, and a small soluble protein, NPC2. NPC1 or NPC2 deficiency models showed that the functions of these two proteins within lysosomes are linked closely. NPC1 is a typical transmembrane protein and contains a number of modification sites for glycosylation. Defects in NPC1 are the cause of Niemann-Pick disease type C1 which exhibits highly variable clinical phenotype. Moreover, NPC1 may play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals.
