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.
TPP2 Gene D81.4
DefinitionThis section has been translated automatically.
EtiopathogenesisThis section has been translated automatically.
Diseases associated with TPP2 include Immunodeficiency 78 With Autoimmunity And Developmental Delay.
LiteratureThis section has been translated automatically.
- 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.
- 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.
- Lu W et al (2014) Dual proteolytic pathways govern glycolysis and immune competence. Cell 159: 1578-1590.
- Stepensky P et al (2015) Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency. Blood 125: 753-761.