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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.
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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

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)

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Can PPT1 mutations lead to other health problems beyond NCL? 03/21/2023

PPT1 mutations are primarily associated with NCL, but they can have varying effects on patients, and in some cases, they may present with atypical symptoms.

What medical condition is associated with mutations in the PPT1 gene? 07/29/2021

Mutations in the PPT1 gene are linked to Neuronal Ceroid Lipofuscinosis (NCL), a group of rare neurodegenerative disorders.

What are the clinical symptoms of NCL caused by PPT1 deficiency? 08/06/2020

Patients with PPT1-related NCL typically experience vision loss, seizures, cognitive decline, and motor dysfunction.

Is there a cure for NCL caused by PPT1 mutations? 09/30/2019

Currently, there is no cure for NCL. Treatment focuses on managing symptoms and improving the quality of life.

How does PPT1 deficiency lead to NCL? 03/19/2019

PPT1 deficiency results in the accumulation of lipofuscin, a fatty substance, in neurons, which causes neurodegeneration.

Customer Reviews (3)

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Reviews
11/20/2022

    It 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.

    04/21/2020

      Incorporating the PPT1 protein into your research will not only meet but exceed your expectations, enabling you to advance your scientific discoveries with confidence.

      09/01/2017

        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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