| Gene Symbol | IL1RAPL1 |
| Entrez Gene ID | 11141 |
| Full Name | interleukin 1 receptor accessory protein like 1 |
| Synonyms | IL-1-RAPL-1,IL-1RAPL-1,IL1R8,IL1RAPL,IL1RAPL-1,MRX10,MRX21,MRX34,OPHN4,TIGIRR-2 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(Human) |
| Genome | |
| Summary | The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. This protein has an N-terminal signal peptide, three extracellular immunoglobulin Ig-like domains, a transmembrane domain, an intracellular Toll/IL-1R domain, and a long C-terminal tail which interacts with multiple signalling molecules. This gene is located at a region on chromosome X that is associated with a non-syndromic form of X-linked intellectual disability. Deletions and mutations in this gene were found in patients with intellectual disability. 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, and plays a role in synapse formation and stabilization. [provided by RefSeq, Jul 2017]. |
| Disorder MIM: | |
| Disorder Html: | Mental retardation, X-linked 21/34, 300143 (3) |
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