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IL1RAPL1 interleukin 1 receptor accessory protein like 1

Also known as: IL1R8; MRX10; MRX21; MRX34; OPHN4; IL1RAPL; TIGIRR-2

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. It is most closely related to interleukin 1 receptor accessory protein-like 2 (IL1RAPL2). 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. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Mental retardation 21, X-linked
MedGen: C0796227OMIM: 300143GeneReviews: Not available
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-08-23)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-08-23)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
Xp22.1-p21.3
Sequence:
Chromosome: X; NC_000023.11 (28587564..29956350)
Total number of exons:
13

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