Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation

TPP1 (OMIM*607998) encodes lysosomal enzyme tripeptidyl peptidase 1 (TPP1), a member of the serine-carboxyl proteinase family. TPP1 is an aminopeptidase that releases of N-terminal tripeptides from a polypeptide and is involved in the processing of neuron-specific trophic factors [1–2]. This protein also shows minor endopeptidase activity [3]. Deficient TPP1 activity in mutant mouse models resulted in intralysosomal accumulation of autofluorescent storage materials, neuronal loss, and widespread axonal degeneration [4].

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