Aliases for TPP1 Gene
External Ids for TPP1 Gene
Previous HGNC Symbols for TPP1 Gene
Previous GeneCards Identifiers 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 I) is a Protein Coding gene. Diseases associated with TPP1 include late-infantile neuronal ceroid lipofuscinosis and ceroid lipofuscinosis, neuronal, 2. Among its related pathways are Transport to the Golgi and subsequent modification and Lysosome. 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).