Palmitoyl protein thioesterase 1
Diseases associated with this gene: CLN1
Gene Home Reference: PPT1
Ensembl gene: ENSG00000131238
Ensembl location: ENSG00000131238

OMIM gene: 600722
Curator: Sara Mole
Source database: NCL Mutation and Patient Database
Direct link: http://www.ucl.ac.uk/ncl/CLN1mutationtable.htm
Download all PPT1 variants in ATOM XML format.

Mutations which were in the source database before 11.2012 were also verified by the FinDis curator.

FinDis has received funding from the Academy of Finland, Center of Excellence in Disease Genetics
and the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project.