The IL1RAPL1 gene maps to chromosome X. IL1RAPL1 protein is expressed to the excitatory synapses and localized to the postsynaptic membrane and regulates excitatory synapses formation (the most abundant synapses of the brain) by interacting with the presynaptic protein called PTPdelta, and neuronal morphology. Abnormalities in IL1RAPL1 functions may alter synaptic communications between neurons in regions underlying cognitive functions.
The majority of the described mutations include large deletions, and it is of particular interest that they mostly involve the first part of the protein that codify for the extracellular domain of IL1RAPL1 protein possibly because this region must be particularly prone to recombination.
IL1RAPL1