Tripeptidyl-Peptidase 1

Tripeptidylpeptidas 1

Engelsk definition

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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

TPP1 Protein — Protein, TPP1 — CLN2 Protein — Protein, CLN2 — Tripeptidyl Aminopeptidase I — Tripeptidyl Protease I — Tripeptidyl-Peptidase I — Tripeptidyl Peptidase I — Peptidase I, Tripeptidyl