PPT1
Template:Short description Template:Infobox gene 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.[1][2][3]
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.[1]
Clinical significance
Defects in this gene are a cause of neuronal ceroid lipofuscinosis type 1 (CLN1).[4]
References
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- ↑ Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses. [Review] Warrier V; Vieira M; Mole SE. Biochimica et Biophysica Acta. 1832(11):1827-30, 2013
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Further reading
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External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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