IL1RAPL1 (Entrez ID: 11141)

Entrez Gene ID 11141
Official Gene Symbol IL1RAPL1 (GeneCards)
Full name interleukin 1 receptor accessory protein like 1
Location Xp21.3-p21.2
Other ids Vega : OTTHUMG00000021317
MIM : 300206
HGNC : HGNC:5996
Ensembl : ENSG00000169306
Other names IL1R8, MRX10, MRX21, MRX34, OPHN4, IL1RAPL, TIGIRR-2, IL1RAPL-1, IL-1RAPL-1, IL-1-RAPL-1
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]

Variants

Found 14 variants in this database.