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.
^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 Genet23 (1): 25–31. doi:10.1038/12623. PMID10471494.
^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 Genet8 (2): 87–94. doi:10.1038/sj.ejhg.5200415. PMID10757639.
Kozák L, Chiurazzi P, Genuardi M et al. (1993). "Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3". J. Med. Genet.30 (10): 866–9. doi:10.1136/jmg.30.10.866. PMC1016571. PMID8230164.
Liu C, Chalmers D, Maki R, De Souza EB (1996). "Rat homolog of mouse interleukin-1 receptor accessory protein: cloning, localization and modulation studies". J. Neuroimmunol.66 (1–2): 41–8. doi:10.1016/0165-5728(96)00016-1. PMID8964912.
Born TL, Smith DE, Garka KE et al. (2000). "Identification and characterization of two members of a novel class of the interleukin-1 receptor (IL-1R) family. Delineation of a new class of IL-1R-related proteins based on signaling". J. Biol. Chem.275 (39): 29946–54. doi:10.1074/jbc.M004077200. PMID10882729.
Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A.99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC139241. PMID12477932.
Kitano T, Schwarz C, Nickel B, Pääbo S (2004). "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees". Mol. Biol. Evol.20 (8): 1281–9. doi:10.1093/molbev/msg134. PMID12777533.
Bahi N, Friocourt G, Carrié A et al. (2004). "IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis". Hum. Mol. Genet.12 (12): 1415–25. doi:10.1093/hmg/ddg147. PMID12783849.
Khan JA, Brint EK, O'Neill LA, Tong L (2004). "Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL". J. Biol. Chem.279 (30): 31664–70. doi:10.1074/jbc.M403434200. PMID15123616.
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.
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. A140 (5): 482–7. doi:10.1002/ajmg.a.31107. PMID16470793.