X-linked interleukin-1 receptor accessory protein-like 1, also known as IL-1R9, is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''IL1RAPL1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
IL1RAPL1 is composed of 11 exons, about 1.37 Mb total.
Function
The protein encoded by this gene, IL-1R9, is a member of the
interleukin-1 receptor family
Members of the very wide interleukin-1 receptor (IL-1R) family are characterized by extracellular immunoglobulin-like domains and intracellular Toll/Interleukin-1 receptor/Resistance protein (TIR) domain. It is a group of structurally homologous p ...
and is similar to the
interleukin 1 accessory proteins. It is most closely related to interleukin 1 receptor accessory protein-like 2 (
IL1RAPL2
X-linked interleukin-1 receptor accessory protein-like 2 is a protein that in humans is encoded by the ''IL1RAPL2'' gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a seq ...
).
Clinical significance
This gene and IL1RAPL2 are located at a region on chromosome X that is associated with X-linked non-syndromic
mental retardation
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental ...
. 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
The hippocampus (: hippocampi; via Latin from Greek , 'seahorse'), also hippocampus proper, is a major component of the brain of humans and many other vertebrates. In the human brain the hippocampus, the dentate gyrus, and the subiculum ar ...
memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities.
References
Further reading
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