TPP1 tripeptidyl peptidase 1

Gene ID: 1200, updated on 31-Mar-2024
Gene type: protein coding
Also known as: CLN2; GIG1; LPIC; SCAR7; TPP-1

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive spinocerebellar ataxia 7 MedGen: C1836474OMIM: 609270GeneReviews: Not available	See labs
Neuronal ceroid lipofuscinosis 2 MedGen: C1876161OMIM: 204500GeneReviews: Not available	See labs

Genomic context

Location:: 11p15.4

Sequence:: Chromosome: 11; NC_000011.10 (6612768..6619422, complement)

Total number of exons:: 13

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TPP1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
Neuronal Ceroid Lipofuscinoses; NCL Mutations
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
TPP1 database
Variation Viewer
Related Variants

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