Tripeptidyl peptidase II
Template:Short description Template:Infobox gene Tripeptidyl-peptidase 2 is an enzyme that in humans is encoded by the TPP2 gene.[1][2] Among other things it is heavily implicated in MHC (HLA) class-I processing, as it has both endopeptidase and exopeptidase activity.[3]
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.[4][5] Some genetic variants may result in a milder disease with sterile brain inflammation mimicking multiple sclerosis.[6] These observations underline the fundamental role of TPP2 in cells of the immune system.
References
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External links
Further reading
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