Linker for activation of T-cells family member 2 is a protein that in humans is encoded by the LAT2gene.[1][2][3]
This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein.[3]
References
↑Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HH, Costa T, Pober B, Lew L, Brinkman J, Rommens J, Koop B, Tsui LC (Jan 1997). "Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients". Genomics. 36 (2): 328–36. doi:10.1006/geno.1996.0469. PMID8812460.
↑Janssen E, Zhu M, Zhang W, Koonpaew S, Zhang W (Jan 2003). "LAB: a new membrane-associated adaptor molecule in B cell activation". Nat Immunol. 4 (2): 117–23. doi:10.1038/ni882. PMID12514734.
Rivera J (2005). "NTAL/LAB and LAT: a balancing act in mast-cell activation and function". Trends Immunol. 26 (3): 119–22. doi:10.1016/j.it.2005.01.001. PMID15745852.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
Martindale DW, Wilson MD, Wang D, et al. (2000). "Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23". Mamm. Genome. 11 (10): 890–8. doi:10.1007/s003350010166. PMID11003705.
Doyle JL, DeSilva U, Miller W, Green ED (2001). "Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome". Cytogenet. Cell Genet. 90 (3–4): 285–90. doi:10.1159/000056790. PMID11124535.
Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. PMID12853948.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
Koonpaew S, Janssen E, Zhu M, Zhang W (2004). "The importance of three membrane-distal tyrosines in the adaptor protein NTAL/LAB". J. Biol. Chem. 279 (12): 11229–35. doi:10.1074/jbc.M311394200. PMID14722116.
Tkaczyk C, Horejsi V, Iwaki S, et al. (2004). "NTAL phosphorylation is a pivotal link between the signaling cascades leading to human mast cell degranulation following Kit activation and Fc epsilon RI aggregation". Blood. 104 (1): 207–14. doi:10.1182/blood-2003-08-2769. PMID15010370.
Janssen E, Zhu M, Craven B, Zhang W (2004). "Linker for activation of B cells: a functional equivalent of a mutant linker for activation of T cells deficient in phospholipase C-gamma1 binding". J. Immunol. 172 (11): 6810–9. doi:10.4049/jimmunol.172.11.6810. PMID15153499.
Tedoldi S, Paterson JC, Hansmann ML, et al. (2006). "Transmembrane adaptor molecules: a new category of lymphoid-cell markers". Blood. 107 (1): 213–21. doi:10.1182/blood-2005-06-2273. PMID16160011.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID16189514.