GENETIC ENCYCLOPEDIA
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gene: TPP1

id1200
symbolTPP1
organismHomo sapiens
full nametripeptidyl peptidase 1
summaryThis 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]
variant-disease

NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) AND Ceroid lipofuscinosis neuronal 2

NM_000391.4(TPP1):c.1027G>A (p.Glu343Lys) AND Ceroid lipofuscinosis neuronal 2

NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu) AND Ceroid lipofuscinosis neuronal 2

NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) AND Ceroid lipofuscinosis neuronal 2

NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) AND Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

... 529 more


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