Gene Symbol | TPP1 |
Entrez Gene ID | 1200 |
Full Name | tripeptidyl peptidase 1 |
Synonyms | CLN2,GIG1,LPIC,SCAR7,TPP-1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Ceroid lipofuscinosis, neuronal, 2, 204500 (3); Spinocerebellar ataxia, autosomal recessive 7, 609270 (3) |