Protein-coding gene in the species Homo sapiens
Tripeptidyl-peptidase 2 is an enzyme that in humans is encoded by the TPP2 gene.[5][6] Among other things it is heavily implicated in MHC (HLA) class-I processing, as it has both endopeptidase and exopeptidase activity.[7]
Clinical significance and genetic deficiency
Biallelic deleterious variants in the TPP2 gene may result in a recessive disorder with immune deficiency, autoimmune disease and intellectual disability.[8][9] Some genetic variants may result in a milder disease with sterile brain inflammation mimicking multiple sclerosis.[10] These observations underline the fundamental role of TPP2 in cells of the immune system.