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Gene Review

AP1S2  -  adaptor-related protein complex 1, sigma 2...

Homo sapiens

Synonyms: AP-1 complex subunit sigma-2, Adaptor protein complex AP-1 subunit sigma-1B, Adaptor-related protein complex 1 subunit sigma-1B, Clathrin assembly protein complex 1 sigma-1B small chain, DC22, ...
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Disease relevance of AP1S2

  • Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation [1].
  • Except 13 sera (19.4%), all remaining sera did not recognize peptides NI-15, DR-16, DC-22 and PS-18, which indicated that these four peptides represented B cell linear epitopes of HIV-1 p24 in some HIV-1 infected individuals but not the immuno-dominant epitopes in most individuals [2].

High impact information on AP1S2


  1. Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Tarpey, P.S., Stevens, C., Teague, J., Edkins, S., O'Meara, S., Avis, T., Barthorpe, S., Buck, G., Butler, A., Cole, J., Dicks, E., Gray, K., Halliday, K., Harrison, R., Hills, K., Hinton, J., Jones, D., Menzies, A., Mironenko, T., Perry, J., Raine, K., Richardson, D., Shepherd, R., Small, A., Tofts, C., Varian, J., West, S., Widaa, S., Yates, A., Catford, R., Butler, J., Mallya, U., Moon, J., Luo, Y., Dorkins, H., Thompson, D., Easton, D.F., Wooster, R., Bobrow, M., Carpenter, N., Simensen, R.J., Schwartz, C.E., Stevenson, R.E., Turner, G., Partington, M., Gecz, J., Stratton, M.R., Futreal, P.A., Raymond, F.L. Am. J. Hum. Genet. (2006) [Pubmed]
  2. Immune Responses to Six Synthetic Peptides of Capsid Protein with Sera from HIV-1 Infected Individuals. Liu, G.J., Yang, L.M., Wang, J.H., Zhang, G.H., Chen, X.M., Zheng, Y.T. Cellular & molecular immunology. (2005) [Pubmed]
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