X-linked interleukin-1 receptor accessory protein-like 1 is a protein that in humans is encoded by the IL1RAPL1gene.[5][6][7] IL1RAPL1 is composed of 11 exons, about 1.37 Mb total.[8]
This gene and IL1RAPL2 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. Deletions and mutations in this gene were found in patients with mental retardation. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities.[7]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Carrie A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers HH, Strom T, Howell GR, Whittaker A, Ross MT, Kahn A, Fryns JP, Beldjord C, Marynen P, Chelly J (Sep 1999). "A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation". Nat Genet. 23 (1): 25–31. doi:10.1038/12623. PMID10471494. S2CID38236297.
^Jin H, Gardner RJ, Viswesvaraiah R, Muntoni F, Roberts RG (May 2000). "Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation". Eur J Hum Genet. 8 (2): 87–94. doi:10.1038/sj.ejhg.5200415. PMID10757639. S2CID22262168.
Zhang YH, Huang BL, Niakan KK, et al. (2005). "IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1". Hum. Mutat. 24 (3): 273. doi:10.1002/humu.9269. PMID15300857. S2CID7885220.
Tabolacci E, Pomponi MG, Pietrobono R, et al. (2006). "A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family". Am. J. Med. Genet. A. 140 (5): 482–7. doi:10.1002/ajmg.a.31107. PMID16470793. S2CID23607874.