PPT1, Human, 重组蛋白 (His) TMPY-00475

Product Introduction
Bioactivity


英文名: PPT1 Protein, Human, Recombinant (His)

描述: Mutations in the depalmitoylating enzyme gene, PPT1, cause the infantile form of Neuronal Ceroid Lipofuscinosis (NCL), an early onset neurodegenerative disease. Mutations in palmitoyl protein thioesterase-1 (PPT1) have been found to cause the infantile form of neuronal ceroid lipofuscinosis, which is a lysosomal storage disorder characterized by impaired degradation of fatty acid-modified proteins with accumulation of amorphous granular deposits in cortical neurons, leading to mental retardation and death. PPT1 catalyzes the cleavage of thioester linkages in S-acylated (palmitoylated) proteins and its deficiency leads to abnormal accumulation of thioesterified polypeptides (ceroid) in lysosomes causing INCL pathogenesis.

存储条件: Lyophilized powder: -20~-80°C for 1 year | Solution: -80°C for 6~12 month

关键字: PPT 1 | CLN 1 | PPT-1 | CLN-1

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