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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, ...

Tarpey, P.S. et al., Liu, G.J. et al.

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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

AP1S2 is the first reported XLMR gene that encodes a protein directly involved in the assembly of endocytic vesicles [1].
AP1S2 encodes an adaptin protein that constitutes part of the adaptor protein complex found at the cytoplasmic face of coated vesicles located at the Golgi complex [1].
In a systematic sequencing screen of the coding exons of the X chromosome in 250 families with X-linked mental retardation (XLMR), we identified two nonsense mutations and one consensus splice-site mutation in the AP1S2 gene on Xp22 in three families [1].

References

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]
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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AgaP_AGAP004283	Anopheles gambiae str. PEST
AT4G35410	Arabidopsis thaliana
AP19	Arabidopsis thaliana
AGOS_AFR124W	Ashbya gossypii ATCC 10895
AP1S2	Bos taurus
aps-1	Caenorhabditis elegans
AP1S2	Canis lupus familiaris
ap1s2	Danio rerio
AP-1sigma	Drosophila melanogaster
AP1S2	Gallus gallus
KLLA0F22814g	Kluyveromyces lactis NRRL Y-1140
AP1S2	Macaca mulatta
MGG_11227	Magnaporthe oryzae 70-15
Ap1s2	Mus musculus
NCU10618	Neurospora crassa OR74A
Os03g0783700	Oryza sativa Japonica Group
AP1S2	Pan troglodytes
Ap1s2	Rattus norvegicus
APS1	Saccharomyces cerevisiae S288c
vas2	Schizosaccharomyces pombe 972h-
ap1s2	Xenopus (Silurana) tropicalis

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