CLN2 proteín TPP1 proteín tripeptidyl aminopeptidáza I tripeptidyl peptidáza I tripeptidyl proteáza I tripeptidyl-peptidáza I
English X references
CLN2 Protein TPP1 Protein Tripeptidyl Aminopeptidase I Tripeptidyl Peptidase I Tripeptidyl Protease I Tripeptidyl-Peptidase I
Scope note in English
Lysosomal Serine proteases that release N-terminal tripeptide from a polypeptide and cleave peptides between hydrophobic residues. An enzyme that in humans encoded by the TPP1 gene. It is involved in the degradation of bone collagen. Mutations in this gene are associated with the CEROID LIPOFUSCINOSIS, NEURONAL, 2; and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE CEROID LIPOFUSCINOSIS, NEURONAL, 2; AND SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7.
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