Gene: PPT1

Alternate names for this Gene: CLN1|INCL|PPT

Gene Summary: The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.2

Description of this Gene: palmitoyl-protein thioesterase 1

Type of Gene: protein-coding

rs34805060 in PPT1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs1057516575 in PPT1 gene and CEROID LIPOFUSCINOSIS, NEURONAL, 1 PMID 10781062 2000 The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis.

PMID 9571187 1998 A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

PMID 9425237 1998 Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

PMID 10679943 2000 Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).

PMID 23857568 2013 A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis.

PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PMID 19941651 2009 Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.

PMID 11506414 2001 Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.

PMID 19201763 2009 Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

PMID 9664077 1998 Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 7637805 1995 Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.

PMID 11520175 2001 Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis.

PMID 23539563 2013 The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.

PMID 10191109 1999 The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland.

PMID 11440996 2001 Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.

PMID 9733046 1998 Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland.

PMID 24997880 2014 Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.

PMID 11073228 2000 Neuronal ceroid lipofuscinoses: research update.

PMID 21704547 2011 Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients.

PMID 19302939 2009 Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.

PMID 23374165 2013 Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

PMID 10649502 2000 Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.

PMID 21499717 2011 Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

PMID 10477428 1999 Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.

PMID 28878621 2017 The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells.

PMID 12796825 2003 Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

PMID 22387303 2012 Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series.

PMID 14997939 2004 The genetic spectrum of human neuronal ceroid-lipofuscinoses.

PMID 19440452 2008 Analysis of NCL Proteins from an Evolutionary Standpoint.

PMID 19793631 2010 Structural basis of neuronal ceroid lipofuscinosis 1.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 11589012 2001 New mutations in the neuronal ceroid lipofuscinosis genes.

PMID 17565660 2007 Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.

PMID 2538469 1989 Translation initiation at non-AUG triplets in mammalian cells.

PMID 9793631 1998 Screening cloned PCR fragments by restriction endonuclease finger-printing to obtain wild-type sequences.

PMID 17044973 2006 [Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis].

rs137852700 in PPT1 gene and Neuronal Ceroid-Lipofuscinoses PMID 9425237 1998 Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

PMID 9664077 1998 Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

PMID 25574475 2014 Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype.

PMID 10191107 1999 Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency.

PMID 11073228 2000 Neuronal ceroid lipofuscinoses: research update.

PMID 17565660 2007 Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.

PMID 11440996 2001 Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.

PMID 10679943 2000 Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).

PMID 11589012 2001 New mutations in the neuronal ceroid lipofuscinosis genes.