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Aliases for TPP1 Gene

Aliases for TPP1 Gene

  • Tripeptidyl Peptidase 1 2 3 5
  • Cell Growth-Inhibiting Gene 1 Protein 3 4
  • Tripeptidyl Aminopeptidase 3 4
  • Tripeptidyl Peptidase I 2 3
  • EC 3.4.14.9 4 56
  • TPP-1 3 4
  • CLN2 3 4
  • LPIC 3 4
  • Ceroid-Lipofuscinosis, Neuronal 2, Late Infantile (Jansky-Bielschowsky Disease) 2
  • Spinocerebellar Ataxia, Autosomal Recessive 7 2
  • Lysosomal Pepstatin Insensitive Protease 3
  • Lysosomal Pepstatin-Insensitive Protease 4
  • Growth-Inhibiting Protein 1 3
  • Tripeptidyl-Peptidase 1 3
  • Tripeptidyl-Peptidase I 4
  • TPP I 2
  • SCAR7 3
  • TPP-I 4
  • GIG1 3

External Ids for TPP1 Gene

Previous HGNC Symbols for TPP1 Gene

  • CLN2
  • SCAR7

Previous GeneCards Identifiers for TPP1 Gene

  • GC11M006591
  • GC11M006292

Summaries for TPP1 Gene

Entrez Gene Summary for TPP1 Gene

  • This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008]

GeneCards Summary for TPP1 Gene

TPP1 (Tripeptidyl Peptidase 1) is a Protein Coding gene. Diseases associated with TPP1 include Ceroid Lipofuscinosis, Neuronal, 2 and Spinocerebellar Ataxia, Autosomal Recessive 7. Among its related pathways are Unfolded Protein Response (UPR) and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity.

UniProtKB/Swiss-Prot for TPP1 Gene

  • Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires substrates with an unsubstituted N-terminus (By similarity).

Gene Wiki entry for TPP1 Gene

Additional gene information for TPP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPP1 Gene

Genomics for TPP1 Gene

GeneHancer (GH) Regulatory Elements for TPP1 Gene

Promoters and enhancers for TPP1 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
GH11I006616 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.0 1044 3.6 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B ENSG00000255680 TPP1 RRP8 OLFML1 MRPL17 RPL21P94 LOC644169 TIMM10B DCHS1 ILK
GH11I006719 Enhancer 0.6 ENCODE dbSUPER 10.7 -100.3 -100286 0.6 MITF MNT PIR51504 RPL21P94 MRPL17 DCHS1 ENSG00000255390 TPP1 OR2AG2 OR2AG1 GC11P006733 GVINP1
GH11I006523 Enhancer 0.5 ENCODE 11.1 +96.0 95995 0.2 FOSL1 JUND JUN FOS CUX1 TIMM10B ENSG00000255390 TPP1 ARFIP2 APBB1 SMPD1 ILK ENSG00000254641 TAF10 DNHD1
GH11I006200 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 3.3 +418.1 418126 2.2 PKNOX1 HLF CEBPB MAX CEBPG REST ELF1 GABPA POLR2A IKZF1 GC11M006197 ENSG00000267940 FAM160A2 TRIM5 CNGA4 TPP1 OR52W1
GH11I006218 Enhancer 0.8 FANTOM5 Ensembl ENCODE 5.6 +400.1 400115 1.5 NFYB FAM160A2 OR52B2 CAVIN3 TPP1 C11orf42
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TPP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TPP1 gene promoter:

Genomic Locations for TPP1 Gene

Genomic Locations for TPP1 Gene
chr11:6,612,763-6,619,461
(GRCh38/hg38)
Size:
6,699 bases
Orientation:
Minus strand
chr11:6,633,997-6,640,692
(GRCh37/hg19)

Genomic View for TPP1 Gene

Genes around TPP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPP1 Gene

Proteins for TPP1 Gene

  • Protein details for TPP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14773-TPP1_HUMAN
    Recommended name:
    Tripeptidyl-peptidase 1
    Protein Accession:
    O14773
    Secondary Accessions:
    • Q53HT1
    • Q5JAK6
    • Q6UX56
    • Q71JP6
    • Q96C37

    Protein attributes for TPP1 Gene

    Size:
    563 amino acids
    Molecular mass:
    61248 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Monomer (PubMed:19038967). Interacts with CLN5 (PubMed:19941651).
    SequenceCaution:
    • Sequence=AAM08412.1; Type=Miscellaneous discrepancy; Note=Incorrectly indicated as originating from bovine.; Evidence={ECO:0000305}; Sequence=AAQ88866.1; Type=Frameshift; Positions=551; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TPP1 Gene

    Alternative splice isoforms for TPP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TPP1 Gene

Selected DME Specific Peptides for TPP1 Gene

O14773:
  • GCHESCL
  • PPLGFLNPRLYQ
  • FPASSPYVTTVGGTSF
  • GAEFHHYVGGP
  • KCSYSPEPDQ
  • RQRPEPQ
  • YFNASGRAYPDVAALSDGYWVVSN
  • RQAELLLPGAEFH
  • QGRGRAGIEASLDV
  • GAGCWSVSGRH
  • NNSQACAQFLEQYFH
  • PSYQEEAV
  • LHLGVTPSV
  • LVQAVSDP
  • LLSNESALP
  • YGKYLTLE
  • EEELSLTFALRQQNVERLS
  • YLMSAGANISTWVYSSPGRHE
  • GLHRFPP
  • TQDFLTCWLS
  • VHTVSYGDDEDSLSS
  • VDYISGGGFSNVFP
  • MKAAARGLTLLFASGD
  • QEPFLQWL
  • YIQRVNTE
  • VPIPWVSGTSASTPVFGG

Post-translational modifications for TPP1 Gene

  • Activated by autocatalytic proteolytical processing upon acidification. N-glycosylation is required for processing and activity.
  • Glycosylation at posLast=210210, isoforms=222, isoforms=2286, posLast=313313, and posLast=443443

Other Protein References for TPP1 Gene

Domains & Families for TPP1 Gene

Gene Families for TPP1 Gene

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

Protein Domains for TPP1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TPP1: view

No data available for UniProtKB/Swiss-Prot for TPP1 Gene

Function for TPP1 Gene

Molecular function for TPP1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Release of an N-terminal tripeptide from a polypeptide, but also has endopeptidase activity.
UniProtKB/Swiss-Prot Function:
Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires substrates with an unsubstituted N-terminus (By similarity).

Enzyme Numbers (IUBMB) for TPP1 Gene

Gene Ontology (GO) - Molecular Function for TPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IMP 10679303
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 12134079
GO:0008233 peptidase activity IMP 9295267
GO:0008236 serine-type peptidase activity IMP,IEA 11054422
genes like me logo Genes that share ontologies with TPP1: view
genes like me logo Genes that share phenotypes with TPP1: view

Human Phenotype Ontology for TPP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TPP1 Gene

MGI Knock Outs for TPP1:

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for TPP1 Gene

Localization for TPP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPP1 Gene

Lysosome. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269 PubMed:12643545}.

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 TPP1 gene
Compartment Confidence
extracellular 5
lysosome 5
mitochondrion 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005764 lysosome IMP 9295267
GO:0042470 melanosome IEA --
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA,HDA 19056867
genes like me logo Genes that share ontologies with TPP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TPP1 Gene

Pathways & Interactions for TPP1 Gene

genes like me logo Genes that share pathways with TPP1: view

Pathways by source for TPP1 Gene

Gene Ontology (GO) - Biological Process for TPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IMP,IEA 9295267
GO:0006629 lipid metabolic process TAS 9295267
GO:0007040 lysosome organization ISS --
GO:0007399 nervous system development IMP 9295267
GO:0007417 central nervous system development IBA --
genes like me logo Genes that share ontologies with TPP1: view

No data available for SIGNOR curated interactions for TPP1 Gene

Drugs & Compounds for TPP1 Gene

(3) Drugs for TPP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for TPP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TPP1: view

Transcripts for TPP1 Gene

Unigene Clusters for TPP1 Gene

Tripeptidyl peptidase I:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TPP1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c · 7d · 7e · 7f ·
SP1: - - - - - - -
SP2: - - - -
SP3: - - - - - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - - - - -
SP9: - - - -
SP10: - - - - - - - - - -
SP11: - - - - - -
SP12: - - - - -
SP13: - - - - - - - - - - - -
SP14: - - - - - - -
SP15: -
SP16: - - - -
SP17:
SP18:
SP19:

ExUns: 7g · 7h · 7i ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c
SP1: -
SP2: -
SP3: - - - - - - - - - -
SP4: - - - - - - - - - -
SP5:
SP6: - - - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

Relevant External Links for TPP1 Gene

GeneLoc Exon Structure for
TPP1
ECgene alternative splicing isoforms for
TPP1

Expression for TPP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TPP1 Gene

Protein differential expression in normal tissues from HIPED for TPP1 Gene

This gene is overexpressed in Urine (8.6) and Adrenal (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TPP1 Gene



Protein tissue co-expression partners for TPP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TPP1 Gene:

TPP1

SOURCE GeneReport for Unigene cluster for TPP1 Gene:

Hs.523454

mRNA Expression by UniProt/SwissProt for TPP1 Gene:

O14773-TPP1_HUMAN
Tissue specificity: Detected in all tissues examined with highest levels in heart and placenta and relatively similar levels in other tissues.

Evidence on tissue expression from TISSUES for TPP1 Gene

  • Nervous system(5)
  • Liver(4.3)
  • Lung(4.1)
  • Spleen(3.9)
  • Kidney(3.7)
  • Blood(3.5)
  • Skin(3.2)
  • Intestine(2.7)
  • Eye(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TPP1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with TPP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TPP1 Gene

Orthologs for TPP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TPP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TPP1 33 34
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia TPP1 33 34
  • 89.93 (n)
cow
(Bos Taurus)
Mammalia TPP1 33 34
  • 89.88 (n)
mouse
(Mus musculus)
Mammalia Tpp1 33 16 34
  • 86.42 (n)
rat
(Rattus norvegicus)
Mammalia Tpp1 33
  • 85.91 (n)
oppossum
(Monodelphis domestica)
Mammalia TPP1 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TPP1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves TPP1 33 34
  • 64.7 (n)
lizard
(Anolis carolinensis)
Reptilia TPP1 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tpp1 33
  • 62.81 (n)
Str.14983 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23928 33
zebrafish
(Danio rerio)
Actinopterygii tpp1 33 34
  • 61.69 (n)
wufa01b09 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8262 33
bread mold
(Neurospora crassa)
Ascomycetes NCU08418 33
  • 45.77 (n)
Species where no ortholog for TPP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TPP1 Gene

ENSEMBL:
Gene Tree for TPP1 (if available)
TreeFam:
Gene Tree for TPP1 (if available)

Paralogs for TPP1 Gene

No data available for Paralogs for TPP1 Gene

Variants for TPP1 Gene

Sequence variations from dbSNP and Humsavar for TPP1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1029334403 likely-benign, Neuronal ceroid lipofuscinosis 6,614,669(-) A/G/T coding_sequence_variant, missense_variant, synonymous_variant
rs1044739961 uncertain-significance, Neuronal Ceroid-Lipofuscinosis, Recessive 6,612,772(-) C/T 3_prime_UTR_variant
rs1045450 benign, Neuronal Ceroid-Lipofuscinosis, Recessive 6,613,428(-) C/G 3_prime_UTR_variant
rs1048574242 uncertain-significance, Neuronal Ceroid-Lipofuscinosis, Recessive 6,613,134(-) A/C 3_prime_UTR_variant
rs1057516264 likely-pathogenic, Ceroid lipofuscinosis neuronal 2 6,614,968(-) CCCCCC/CCCCCCC coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for TPP1 Gene

Variant ID Type Subtype PubMed ID
nsv1035138 CNV gain 25217958
nsv553373 CNV loss 21841781
nsv553374 CNV loss 21841781
nsv825755 CNV gain 20364138

Variation tolerance for TPP1 Gene

Residual Variation Intolerance Score: 83.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.56; 55.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TPP1 Gene

Human Gene Mutation Database (HGMD)
TPP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TPP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPP1 Gene

Disorders for TPP1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for TPP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 2
  • cln2
spinocerebellar ataxia, autosomal recessive 7
  • scar7
ceroid storage disease
  • lipofuscin storage disease
neuronal ceroid lipofuscinosis
  • batten disease
neuronal ceroid-lipofuscinoses
  • neuronal ceroid-lipofuscinosis, infantile
- elite association - COSMIC cancer census association via MalaCards
Search TPP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TPP1_HUMAN
  • Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]: A form of neuronal ceroid lipofuscinosis. 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 CLN2 consists of curvilinear profiles. {ECO:0000269 PubMed:10330339, ECO:0000269 PubMed:10665500, ECO:0000269 PubMed:11241479, ECO:0000269 PubMed:11339651, ECO:0000269 PubMed:11589012, ECO:0000269 PubMed:12376936, ECO:0000269 PubMed:12414822, ECO:0000269 PubMed:12698559, ECO:0000269 PubMed:14736728, ECO:0000269 PubMed:19201763, ECO:0000269 PubMed:20340139, ECO:0000269 PubMed:21990111, ECO:0000269 PubMed:22612257, ECO:0000269 PubMed:9295267}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinocerebellar ataxia, autosomal recessive, 7 (SCAR7) [MIM:609270]: Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR7 patients show difficulty walking and writing, dysarthria, limb ataxia, and cerebellar atrophy. {ECO:0000269 PubMed:23418007}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TPP1

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 TPP1: view

No data available for Genatlas for TPP1 Gene

Publications for TPP1 Gene

  1. Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis. (PMID: 9653647) Liu CG … Lobel P (Genomics 1998) 2 3 4 22 58
  2. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). (PMID: 23418007) Sun Y … Maat-Kievit AJ (Human mutation 2013) 2 3 4 58
  3. Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. (PMID: 20340139) Walus M … Golabek AA (Human mutation 2010) 3 4 22 58
  4. Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. (PMID: 19038966) Pal A … Steinfeld R (The Journal of biological chemistry 2009) 3 4 22 58
  5. Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis. (PMID: 19038967) Guhaniyogi J … Lobel P (The Journal of biological chemistry 2009) 3 4 22 58

Products for TPP1 Gene

  • Addgene plasmids for TPP1

Sources for TPP1 Gene

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