Recombinant Human PPT1 Protein, His-tagged
Cat.No. : | PPT1-652H |
Product Overview : | Recombinant Human PPT1, transcript variant 1, fused with His tag at N-terminal was expressed in E. coli. |
- Specification
- Gene Information
- Related Products
Description : | The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene. |
Source : | E. coli |
Species : | Human |
Tag : | His |
Form : | 25mM Tris, pH8.0, 150 mM NaCl, 10% glycerol, 1 % Sarkosyl. Store at -80 centigrade. Avoid repeated freeze-thaw cycles. Stable for at least 3 months from receipt of products under proper storage and handling conditions. |
Molecular Mass : | 34.2 kDa |
Purity : | > 80% as determined by SDS-PAGE and Coomassie blue staining |
Concentration : | >50 ug/mL as determined by microplate BCA method |
Gene Name : | PPT1 palmitoyl-protein thioesterase 1 [ Homo sapiens ] |
Official Symbol : | PPT1 |
Synonyms : | PPT1; palmitoyl-protein thioesterase 1; PPT; ceroid lipofuscinosis; neuronal 1; infantile; CLN1; INCL; PPT-1; palmitoyl-protein hydrolase 1; ceroid-palmitoyl-palmitoyl-protein thioesterase 1; |
Gene ID : | 5538 |
mRNA Refseq : | NM_000310 |
Protein Refseq : | NP_000301 |
MIM : | 600722 |
UniProt ID : | P50897 |
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Related Gene
For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.
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Q&As (5)
Ask a questionPPT1 mutations are primarily associated with NCL, but they can have varying effects on patients, and in some cases, they may present with atypical symptoms.
Mutations in the PPT1 gene are linked to Neuronal Ceroid Lipofuscinosis (NCL), a group of rare neurodegenerative disorders.
Patients with PPT1-related NCL typically experience vision loss, seizures, cognitive decline, and motor dysfunction.
Currently, there is no cure for NCL. Treatment focuses on managing symptoms and improving the quality of life.
PPT1 deficiency results in the accumulation of lipofuscin, a fatty substance, in neurons, which causes neurodegeneration.
Customer Reviews (3)
Write a reviewIt has been shown to play a crucial role in multiple cellular processes, making it highly valuable for investigations into cell signaling, inflammation, and immune responses.
Incorporating the PPT1 protein into your research will not only meet but exceed your expectations, enabling you to advance your scientific discoveries with confidence.
Researchers can leverage the unique properties of the PPT1 protein to gain insights into its biological functions and its impact on disease mechanisms.
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