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Aliases for PPT1 Gene

Aliases for PPT1 Gene

  • Palmitoyl-Protein Thioesterase 1 2 3 4 5
  • Palmitoyl-Protein Hydrolase 1 3 4
  • EC 3.1.2.22 4 56
  • CLN1 3 4
  • PPT 3 4
  • Ceroid-Palmitoyl-Palmitoyl-Protein Thioesterase 1 3
  • Ceroid-Lipofuscinosis, Neuronal 1, Infantile 2
  • PPT-1 4
  • INCL 3

External Ids for PPT1 Gene

Previous HGNC Symbols for PPT1 Gene

  • PPT

Previous GeneCards Identifiers for PPT1 Gene

  • GC01M040567
  • GC01M039541
  • GC01M040001
  • GC01M039951
  • GC01M040207
  • GC01M040310
  • GC01M038656

Summaries for PPT1 Gene

Entrez Gene Summary for PPT1 Gene

  • 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.[provided by RefSeq, Dec 2008]

GeneCards Summary for PPT1 Gene

PPT1 (Palmitoyl-Protein Thioesterase 1) is a Protein Coding gene. Diseases associated with PPT1 include Ceroid Lipofuscinosis, Neuronal, 1 and Neuronal Ceroid Lipofuscinosis. Among its related pathways are Fatty acid metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). Gene Ontology (GO) annotations related to this gene include palmitoyl-CoA hydrolase activity and palmitoyl hydrolase activity. An important paralog of this gene is PPT2.

UniProtKB/Swiss-Prot for PPT1 Gene

  • Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons (PubMed:8816748).

Gene Wiki entry for PPT1 Gene

Additional gene information for PPT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPT1 Gene

Genomics for PPT1 Gene

GeneHancer (GH) Regulatory Elements for PPT1 Gene

Promoters and enhancers for PPT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J040095 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 636.3 +0.9 927 2.8 ELF3 MNT CBFA2T2 NKRF POLR2A GTF2F1 CSDE1 ZNF687 NFRKB AHR PPT1 PPIE EXO5 TRIT1 PPIEL PABPC4 RLF NFYC SMAP2 CAP1
GH01J040036 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 26.5 +58.1 58077 7.1 HDGF SP1 ELF3 ZFX ZKSCAN8 MNT SIX5 CBFA2T2 ZNF148 NKRF CAP1 LOC105378669 PPT1 PPIE TRIT1 SNORA55 PABPC4-AS1 PPIEL ZNF684 ZFP69
GH01J040093 Promoter/Enhancer 1.1 Ensembl dbSUPER 39.1 +4.2 4226 1 MAFK ZNF316 NFE2 MAFG NFE2L2 CEBPB ZMYM3 KDM1A EMSY PPT1 CAP1
GH01J040055 Enhancer 1.2 ENCODE dbSUPER 32.4 +39.0 39035 6 CC2D1A ZFX ELF3 ZKSCAN8 CBFA2T2 CEBPG GTF2F1 BACH1 MAFK NCOA6 EXO5 PPT1 TRIT1 PPIE NFYC PPIEL RLF LOC105378668 ENSG00000202222 CAP1
GH01J040075 Enhancer 1.1 Ensembl ENCODE dbSUPER 32.8 +21.3 21307 2.8 SMARCA4 DPF2 IKZF1 CTBP1 POLR2A HDAC2 EHMT2 FOSL1 CEBPG ZNF592 PPT1 CAP1 ZMPSTE24 ENSG00000231296 TRIT1 ENSG00000202222
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPT1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • E47
  • Tal-1

Genomic Locations for PPT1 Gene

Genomic Locations for PPT1 Gene
chr1:40,071,461-40,097,727
(GRCh38/hg38)
Size:
26,267 bases
Orientation:
Minus strand
chr1:40,538,379-40,563,375
(GRCh37/hg19)
Size:
24,997 bases
Orientation:
Minus strand

Genomic View for PPT1 Gene

Genes around PPT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPT1 Gene

Proteins for PPT1 Gene

  • Protein details for PPT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50897-PPT1_HUMAN
    Recommended name:
    Palmitoyl-protein thioesterase 1
    Protein Accession:
    P50897
    Secondary Accessions:
    • B4DY24
    • Q6FGQ4

    Protein attributes for PPT1 Gene

    Size:
    306 amino acids
    Molecular mass:
    34193 Da
    Quaternary structure:
    • Interacts with CLN5 (PubMed:19941651). Interacts with ATP5F1A and ATP5F1B (By similarity).

    Three dimensional structures from OCA and Proteopedia for PPT1 Gene

    Alternative splice isoforms for PPT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPT1 Gene

Selected DME Specific Peptides for PPT1 Gene

P50897:
  • EDVENSFFLNVN
  • IVDPVDSEWFGFYRSGQAKETIPLQE
  • SVGGQHQGVFG
  • KDPKLQQGYNA
  • NLMALKKFVMVKF
  • PLVIWHGMGDSCCNP
  • SIFLADIN
  • CCNPLSMG

Post-translational modifications for PPT1 Gene

  • Glycosylated.
  • Ubiquitination at isoforms=2253 and isoforms=2174
  • Glycosylation at isoforms=2197, isoforms=2232, and isoforms=2212
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Domains & Families for PPT1 Gene

Gene Families for PPT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for PPT1 Gene

Suggested Antigen Peptide Sequences for PPT1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53673, highly similar to Palmitoyl-protein thioesterase 1 (EC 3.1.2.22) (B4DWU3_HUMAN)
  • cDNA FLJ53679, highly similar to Palmitoyl-protein thioesterase 1 (EC 3.1.2.22) (B4DY24_HUMAN)
  • Palmitoyl-protein hydrolase 1 (PPT1_HUMAN)
  • Palmitoyl-protein thioesterase 1 (Q5T0S0_HUMAN)
  • Palmitoyl-protein thioesterase 1 (Q5T0S4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P50897

UniProtKB/Swiss-Prot:

PPT1_HUMAN :
  • Belongs to the palmitoyl-protein thioesterase family.
Family:
  • Belongs to the palmitoyl-protein thioesterase family.
genes like me logo Genes that share domains with PPT1: view

Function for PPT1 Gene

Molecular function for PPT1 Gene

UniProtKB/Swiss-Prot Function:
Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons (PubMed:8816748).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + S-hexadecanoyl-L-cysteinyl-[protein] = H(+) + hexadecanoate + L-cysteinyl-[protein]; Xref=Rhea:RHEA:19233, Rhea:RHEA-COMP:10131, Rhea:RHEA-COMP:11032, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29950, ChEBI:CHEBI:74151; EC=3.1.2.22; Evidence=. ;.

Enzyme Numbers (IUBMB) for PPT1 Gene

Phenotypes From GWAS Catalog for PPT1 Gene

Gene Ontology (GO) - Molecular Function for PPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19941651
GO:0008474 palmitoyl-(protein) hydrolase activity IEA,TAS --
GO:0016290 palmitoyl-CoA hydrolase activity ISS --
GO:0016787 hydrolase activity IEA --
GO:0098599 palmitoyl hydrolase activity IEA --
genes like me logo Genes that share ontologies with PPT1: view
genes like me logo Genes that share phenotypes with PPT1: view

Human Phenotype Ontology for PPT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PPT1 Gene

MGI Knock Outs for PPT1:

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for PPT1 - Now 50% OFF >
  • * PPT1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PPT1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for PPT1

No data available for Transcription Factor Targets and HOMER Transcription for PPT1 Gene

Localization for PPT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPT1 Gene

Lysosome. Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPT1 gene
Compartment Confidence
extracellular 5
nucleus 5
lysosome 5
golgi apparatus 5
cytosol 4
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for PPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region ISS --
GO:0005615 extracellular space IEA --
GO:0005634 nucleus IDA 10992246
GO:0005764 lysosome IBA,ISS --
GO:0005794 Golgi apparatus IDA 7637805
genes like me logo Genes that share ontologies with PPT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PPT1 Gene

Pathways & Interactions for PPT1 Gene

genes like me logo Genes that share pathways with PPT1: view

Gene Ontology (GO) - Biological Process for PPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002084 protein depalmitoylation ISS --
GO:0006898 receptor-mediated endocytosis IMP 16542649
GO:0006907 pinocytosis IMP 16542649
GO:0007040 lysosome organization IEA --
GO:0007042 lysosomal lumen acidification IMP 11722572
genes like me logo Genes that share ontologies with PPT1: view

No data available for SIGNOR curated interactions for PPT1 Gene

Drugs & Compounds for PPT1 Gene

(9) Drugs for PPT1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Approved Pharma Full agonist, Agonist, Target 25
Water Approved Pharma 0
1-Hexadecylsulfonyl Fluoride Experimental Pharma Target 0
Coenzyme A Investigational Nutra 0

(6) Additional Compounds for PPT1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
hexadecanoyl-CoA
  • coenzyme A, S-Hexadecanoate
  • Palmitoyl coenzyme A
  • S-Palmitoylcoenzyme A
  • coenzyme A, S-Hexadecanoic acid
Palmityl-CoA
  • Hexadecanoyl CoA
  • Hexadecanoyl coenzyme A
  • Palmitoyl CoA
  • Palmitoyl coenzyme A
  • Palmitoyl-CoA
1763-10-6
genes like me logo Genes that share compounds with PPT1: view

Transcripts for PPT1 Gene

mRNA/cDNA for PPT1 Gene

Unigene Clusters for PPT1 Gene

Palmitoyl-protein thioesterase 1:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for PPT1 - Now 50% OFF >
  • * PPT1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PPT1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for PPT1

Alternative Splicing Database (ASD) splice patterns (SP) for PPT1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d ^ 11
SP1: -
SP2: - -
SP3:
SP4: - - - - - -
SP5:

Relevant External Links for PPT1 Gene

GeneLoc Exon Structure for
PPT1
ECgene alternative splicing isoforms for
PPT1

Expression for PPT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPT1 Gene

mRNA differential expression in normal tissues according to GTEx for PPT1 Gene

This gene is overexpressed in Whole Blood (x6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPT1 Gene



Protein tissue co-expression partners for PPT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPT1 Gene:

PPT1

SOURCE GeneReport for Unigene cluster for PPT1 Gene:

Hs.3873

Evidence on tissue expression from TISSUES for PPT1 Gene

  • Nervous system(5)
  • Liver(4.3)
  • Blood(4)
  • Kidney(3.8)
  • Lung(3.6)
  • Spleen(3.4)
  • Eye(3.3)
  • Skin(3.1)
  • Intestine(3)
  • Pancreas(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PPT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • mouth
  • pharynx
Thorax:
  • heart
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with PPT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PPT1 Gene

Orthologs for PPT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPT1 35 34
  • 99.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PPT1 35 34
  • 91.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CLN1 35
  • 91 (a)
OneToOne
PPT1 34
  • 90.27 (n)
mouse
(Mus musculus)
Mammalia Ppt1 17 35 34
  • 85.03 (n)
rat
(Rattus norvegicus)
Mammalia Ppt1 34
  • 84.26 (n)
oppossum
(Monodelphis domestica)
Mammalia PPT1 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPT1 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPT1 35 34
  • 72.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPT1 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppt1 34
  • 68.24 (n)
zebrafish
(Danio rerio)
Actinopterygii ppt1 35 34
  • 66.56 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ppt1 35 36 34
  • 58.03 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001058 34
  • 57.97 (n)
worm
(Caenorhabditis elegans)
Secernentea ppt-1 35 36 34
  • 56.29 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G60340 34
  • 46.16 (n)
rice
(Oryza sativa)
Liliopsida Os03g0101100 34
  • 44.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9019 35
  • 57 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06530 34
  • 48.22 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pdf1 34
  • 45.98 (n)
Species where no ortholog for PPT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPT1 Gene

ENSEMBL:
Gene Tree for PPT1 (if available)
TreeFam:
Gene Tree for PPT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPT1: view image

Paralogs for PPT1 Gene

Paralogs for PPT1 Gene

(4) SIMAP similar genes for PPT1 Gene using alignment to 7 proteins:

  • PPT1_HUMAN
  • E9PIA8_HUMAN
  • E9PK48_HUMAN
  • E9PMG2_HUMAN
  • E9PP28_HUMAN
  • E9PSE5_HUMAN
  • Q5T0S4_HUMAN
genes like me logo Genes that share paralogs with PPT1: view

Variants for PPT1 Gene

Sequence variations from dbSNP and Humsavar for PPT1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1012813914 uncertain-significance, Neuronal Ceroid-Lipofuscinosis, Recessive 40,073,721(-) A/C 3_prime_UTR_variant
rs1057515445 uncertain-significance, Neuronal Ceroid-Lipofuscinosis, Recessive 40,073,042(-) G/A 3_prime_UTR_variant
rs1057515446 uncertain-significance, Neuronal Ceroid-Lipofuscinosis, Recessive 40,073,151(-) G/A 3_prime_UTR_variant
rs1057515447 uncertain-significance, Neuronal Ceroid-Lipofuscinosis, Recessive 40,073,809(-) G/A 3_prime_UTR_variant
rs1057515448 uncertain-significance, Neuronal Ceroid-Lipofuscinosis, Recessive 40,078,581(-) A/G coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for PPT1 Gene

Variant ID Type Subtype PubMed ID
dgv35n67 CNV loss 20364138
esv2663819 CNV deletion 23128226
esv2747330 CNV deletion 23290073
esv2750836 CNV gain 17911159
esv2758933 CNV loss 17122850
esv3585798 CNV loss 21293372
esv6823 CNV loss 19470904
nsv10128 CNV loss 18304495
nsv1133843 CNV deletion 24896259
nsv1133844 CNV deletion 24896259
nsv476221 CNV novel sequence insertion 20440878
nsv829660 CNV gain+loss 17160897

Variation tolerance for PPT1 Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.15; 69.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPT1
Human Gene Mutation Database (HGMD)
PPT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPT1 Gene

Disorders for PPT1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for PPT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 1
  • cln1
neuronal ceroid lipofuscinosis
  • batten disease
ceroid storage disease
  • lipofuscin storage disease
ceroid lipofuscinosis, neuronal, 3
  • cln3
neuronal ceroid-lipofuscinoses
  • neuronal ceroid-lipofuscinosis, infantile
- elite association - COSMIC cancer census association via MalaCards
Search PPT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PPT1_HUMAN
  • Ceroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]: A form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). {ECO:0000269 PubMed:11506414, ECO:0000269 PubMed:19201763, ECO:0000269 PubMed:19941651, ECO:0000269 PubMed:21990111, ECO:0000269 PubMed:7637805, ECO:0000269 PubMed:9425237, ECO:0000269 PubMed:9664077}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PPT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PPT1: view

No data available for Genatlas for PPT1 Gene

Publications for PPT1 Gene

  1. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. (PMID: 19201763) Kousi M … Lehesjoki AE (Brain : a journal of neurology 2009) 3 4 45 58
  2. Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. (PMID: 19941651) Lyly A … Kyttälä A (BMC cell biology 2009) 3 4 23 58
  3. Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. (PMID: 11506414) van Diggelen OP … Voznyi YV (Annals of neurology 2001) 3 4 23 58
  4. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. (PMID: 9425237) Mitchison HM … O'Rawe AM (Human molecular genetics 1998) 3 4 23 58
  5. Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. (PMID: 9664077) Das AK … Hofmann SL (The Journal of clinical investigation 1998) 3 4 23 58

Products for PPT1 Gene

Sources for PPT1 Gene

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