Tripeptidyl peptidase II

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Template:Short description An Error has occurred retrieving Wikidata item for infobox 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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  1. ^ Page Module:Citation/CS1/styles.css has no content.Tomkinson B, Jonsson AK (January 1991). "Characterization of cDNA for human tripeptidyl peptidase II: the N-terminal part of the enzyme is similar to subtilisin". Biochemistry. 30 (1): 168–174. doi:10.1021/bi00215a025. PMID 1670990.
  2. ^ Page Module:Citation/CS1/styles.css has no content."Entrez Gene: TPP2 tripeptidyl peptidase II".
  3. ^ Page Module:Citation/CS1/styles.css has no content.Reits E, Neijssen J, Herberts C, Benckhuijsen W, Janssen L, Drijfhout JW, Neefjes J (April 2004). "A major role for TPPII in trimming proteasomal degradation products for MHC class I antigen presentation". Immunity. 20 (4): 495–506. doi:10.1016/S1074-7613(04)00074-3. PMID 15084277.
  4. ^ Page Module:Citation/CS1/styles.css has no content.Lu W, Zhang Y, McDonald DO, Jing H, Carroll B, Robertson N, et al. (December 2014). "Dual proteolytic pathways govern glycolysis and immune competence". Cell. 159 (7): 1578–1590. doi:10.1016/j.cell.2014.12.001. PMC 4297473. PMID 25525876.
  5. ^ Page Module:Citation/CS1/styles.css has no content.Atallah I, Quinodoz M, Campos-Xavier B, Peter VG, Fouriki A, Bonvin C, et al. (June 2021). "Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene". Clinical Genetics. 99 (6): 780–788. doi:10.1111/cge.13942. PMID 33586135. S2CID 231926886.
  6. ^ Page Module:Citation/CS1/styles.css has no content.Reinthaler EM, Graf E, Zrzavy T, Wieland T, Hotzy C, Kopecky C, et al. (December 2018). "TPP2 mutation associated with sterile brain inflammation mimicking MS". Neurology. Genetics. 4 (6): e285. doi:10.1212/NXG.0000000000000285. PMC 6244017. PMID 30533531.

Further reading

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