palmitoyl-protein thioesterase 1

palmitoyl-protein thioesterase 1

A small glycoprotein enzyme encoded by PPT1 on chromosome 1p32, which removes thioester-linked fatty acyl groups such as palmitate from cysteine residues.  It is absent in neuronal ceroid lipofuscinosis types 1 and 4.
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24,25) Assays for palmitoyl-protein thioesterase 1 and tripeptidyl-peptidase 1 are clinically available.
In infantile and late infantile NCL, the disorder is brought on by inherited mutations in the CLN1 gene, which codes for palmitoyl-protein thioesterase 1 (PPT1) or in the CLN2 gene, which codes for tripeptidyl peptidase I (TPP-I), respectively.
In the infantile and late infantile subtypes of NCL, the disorder is brought on by inherited mutations in the CLN1 gene, which codes for palmitoyl-protein thioesterase 1 (PPT1) or in the CLN2 gene, which codes for tripeptidyl peptidase I (TPP-I), respectively.
In two subtypes of NCL, infantile and late infantile, the disorder is brought on by inherited mutations in the CLN1 gene, which codes for palmitoyl-protein thioesterase 1 (PPT1) or in the CLN2 gene, which codes for tripeptidyl peptidase I (TPP-I).
In two subtypes of the NCLs, infantile and late infantile NCL, the disorders are brought on by inherited genetic mutations in the CLN1 gene, which codes for palmitoyl-protein thioesterase 1 (PPT1) and in the CLN2 gene, which codes for tripeptidyl peptidase I (TPP-I).