TPP2 Gene D81.4

The TPP2 gene (TPP2 stands for "Tripeptidyl Peptidase 2") is a protein coding gene located on chromosome 13q33.1. The encoded protein, cytosolic tripeptidyl peptidase, is an enzyme that releases the N-terminal tripeptides of polypeptides and is a component of the proteolytic cascade downstream of the 26S proteasome in the ubiquitin-proteasome pathway. This enzyme plays an important role in intracellular amino acid homeostasis. Stimulates adipogenesis.

Diseases associated with TPP2 include Immunodeficiency 78 With Autoimmunity And Developmental Delay.

1. Atallah I et al. (2021) Immune deficiency, autoimmune disease and intellectual disability: a pleiotropic disorder caused by biallelic variants in the TPP2 gene. Clin. Genet. 99: 780-788.
2. Huai J et al (2008) Activation of cellular death programs associated with immunosenescence-like phenotype in TPPII knockout mice. Proc Nat Acad Sci 105: 5177-5182.
3. Lu W et al (2014) Dual proteolytic pathways govern glycolysis and immune competence. Cell 159: 1578-1590.
4. Stepensky P et al (2015) Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency. Blood 125: 753-761.