Girish Mahajan (Editor)

PPT1

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Covid-19
Species  Human
Entrez  5538
Human  Mouse
Ensembl  ENSG00000131238
PPT1
Aliases  PPT1, CLN1, INCL, PPT, palmitoyl-protein thioesterase 1
External IDs  MGI: 1298204 HomoloGene: 7488 GeneCards: PPT1

Palmitoyl-protein thioesterase 1 (PPT-1), also known as palmitoyl-protein hydrolase 1, is an enzyme that in humans is encoded by the PPT1 gene.

Contents

Function

PPT-1 a member of the palmitoyl protein thioesterase family. PPT-1 is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. This enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues.

Clinical significance

Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4).

References

PPT1 Wikipedia


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