Recombinant Human Niemann Pick C1 protein (ab114306)
Key features and details
- Expression system: Wheat germ
- Suitable for: WB, SDS-PAGE, ELISA
Description
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Product name
Recombinant Human Niemann Pick C1 protein
See all Niemann Pick C1 proteins and peptides -
Expression system
Wheat germ -
Accession
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Protein length
Protein fragment -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
GFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQ APFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPK -
Predicted molecular weight
37 kDa including tags -
Amino acids
151 to 250
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Specifications
Our Abpromise guarantee covers the use of ab114306 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
Western blot
SDS-PAGE
ELISA
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Form
Liquid -
Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.3% Glutathione, 0.79% Tris HCl
General Info
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Alternative names
- Niemann Pick C1 protein precursor
- Niemann Pick disease, type C1
- Niemann-Pick C1 protein
see all -
Function
Involved in the intracellular trafficking of cholesterol. 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. -
Involvement in disease
Defects in NPC1 are the cause of Niemann-Pick disease type C1 (NPDC1) [MIM:257220]. 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 C1 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. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected. -
Sequence similarities
Belongs to the patched family.
Contains 1 SSD (sterol-sensing) domain. -
Domain
A cysteine-rich N-terminal domain and a C-terminal domain containing a di-leucine motif necessary for lysosomal targeting are critical for mobilization of cholesterol from lysosomes. -
Post-translational
modificationsGlycosylated. -
Cellular localization
Late endosome membrane. Lysosome membrane. - Information by UniProt
Protocols
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
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Datasheet download
References (0)
ab114306 has not yet been referenced specifically in any publications.