Tripeptidyl peptidase II

Tripeptidyl-peptidase 2 is an enzyme that in humans is encoded by the TPP2 gene. Among other things it is heavily implicated in MHC class-I processing, as it has both endopeptidase and exopeptidase activity.

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. Some genetic variants may result in a milder disease with sterile brain inflammation mimicking multiple sclerosis. These observations underline the fundamental role of TPP2 in cells of the immune system.