The PPT1 gene homepage

An NCL gene variant database
General information
Gene symbol PPT1
Gene name palmitoyl-protein thioesterase 1
Chromosome 1
Chromosomal band p32
Imprinted Unknown
Genomic reference NG_009192.1
Transcript reference NM_000310.3
Exon/intron information NM_000310.3 exon/intron table
Associated with diseases CLN, CLN-1
Citation reference(s) PubMed: Kousi 2012
Refseq URL Genomic reference sequence
Curators (1) Sara Mole
Total number of public variants reported 357
Unique public DNA variants reported 99
Individuals with public variants 320
Hidden variants 2
Download all this gene's data Download all data
Notes Alias CLN1.
An NCL gene variant database.
Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
This database was initially part of the Finnish Disease Resource (FinDis; Polvi 2013: Hum Mutat. 34: 1458-1466). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created April 29, 2010
Date last updated September 15, 2020
Version PPT1:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000310.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
NCL Resource - A gateway for Batten disease database
HGNC 9325
Entrez Gene 5538
PubMed articles PPT1
OMIM - Gene 600722
OMIM - Diseases CLN-1 (lipofuscinosis, ceroid, neuronal, type 1 (CLN-1))
GeneCards PPT1
GeneTests PPT1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000104 1 palmitoyl-protein thioesterase 1, transcript variant 1 NM_000310.3 NP_000301.1 357

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.