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IL1RAPL1 interleukin 1 receptor accessory protein like 1

Gene ID: 11141, updated on 11-Apr-2024
Gene type: protein coding
Also known as: 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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Intellectual disability, X-linked 21See labs
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
GeneReviews: Not available

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2023-11-14)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2023-11-14)

ClinGen Genome Curation Page

Genomic context

Location:
Xp21.3-p21.2
Sequence:
Chromosome: X; NC_000023.11 (28587446..29956718)
Total number of exons:
13

Links

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