IL1RAPL1 - interleukin 1 receptor accessory protein...
Synonyms: IL-1-RAPL-1, IL-1RAPL-1, IL1R8, IL1RAPL, IL1RAPL-1, ...
- IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system. Ferrante, M.I., Ghiani, M., Bulfone, A., Franco, B. Gene (2001)
- Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation. Jin, H., Gardner, R.J., Viswesvaraiah, R., Muntoni, F., Roberts, R.G. Eur. J. Hum. Genet. (2000)
- Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Laumonnier, F., Ronce, N., Hamel, B.C., Thomas, P., Lespinasse, J., Raynaud, M., Paringaux, C., Van Bokhoven, H., Kalscheuer, V., Fryns, J.P., Chelly, J., Moraine, C., Briault, S. Am. J. Hum. Genet. (2002)
- IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis. Bahi, N., Friocourt, G., Carrié, A., Graham, M.E., Weiss, J.L., Chafey, P., Fauchereau, F., Burgoyne, R.D., Chelly, J. Hum. Mol. Genet. (2003)
- IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1. Zhang, Y.H., Huang, B.L., Niakan, K.K., McCabe, L.L., McCabe, E.R., Dipple, K.M. Hum. Mutat. (2004)
- Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation. Leprêtre, F., Delannoy, V., Froguel, P., Vasseur, F., Montpellier, C. Cytogenet. Genome Res. (2003)
- A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. Tabolacci, E., Pomponi, M.G., Pietrobono, R., Terracciano, A., Chiurazzi, P., Neri, G. Am. J. Med. Genet. A (2006)
- 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. Born, T.L., Smith, D.E., Garka, K.E., Renshaw, B.R., Bertles, J.S., Sims, J.E. J. Biol. Chem. (2000)
- X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family. Van Esch, H., Zanni, G., Holvoet, M., Borghgraef, M., Chelly, J., Fryns, J.P., Devriendt, K. European journal of medical genetics. (2005)