TPP2

Description

The TPP2 (tripeptidyl peptidase 2) is a protein-coding gene located on chromosome 13.

TPP2 is an enzyme encoded by the TPP2 gene in humans. It possesses both endopeptidase and exopeptidase activities, crucial for MHC (HLA) class-I processing. Deficiencies in TPP2 can lead to a recessive disorder characterized by immune deficiency, autoimmune disease, and intellectual disability. Some variants may cause a milder form with sterile brain inflammation resembling multiple sclerosis. These findings highlight the fundamental role of TPP2 in the immune system.

TPP2 is a cytosolic enzyme that removes N-terminal tripeptides from polypeptides, playing a role in the proteolytic cascade downstream of the 26S proteasome in the ubiquitin-proteasome pathway. It contributes to intracellular amino acid homeostasis and promotes adipogenesis. (UniProtKB:Q64514, PubMed:25525876, PubMed:30533531)

TPP2 is also known as IMD78, TPP-2, TPP-II, TPPII.

Associated Diseases

• Immunodeficiency 78 with autoimmunity and developmental delay
• Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency