PPT1

(redirected from CLN1)
Also found in: Acronyms.

PPT1

A gene on chromosome 1p32 that encodes palmitoyl-protein thioesterase 1, a small glycoprotein enzyme that removes thioester-linked fatty acyl groups such as palmitate from cysteine residues.

Molecular pathology
PPT1 mutations are linked to neuronal ceroid lipofuscinosis types 1 and 4.
References in periodicals archive ?
Samples from patients with CLN1 displayed activities that were <3% of the mean for the controls, i.
We consider the dried blood tests for PPT1 and TPP1 a very useful approach to the diagnosis of CLN1 and CLN2.
In two sub-types of the NCLs - infantile and late infantile or, more technically, CLN1 and CLN2 - normally secreted housekeeping lysosomal enzymes are either defective or missing altogether, as a result of gene mutations.
In the proposed clinical trial, HuCNS-SC will be transplanted in the CLN1 and CLN2 patients in part to determine if the transplanted cells secrete the missing lysosomal enzymes in the brains of affected individuals.