IL1RAPL1

IL1RAPL1 is a gene located on the X chromosome in humans. It encodes for interleukin 1 receptor accessory protein-like 1. This protein is a member of the interleukin-1 receptor family.

IL1RAPL1 is thought to play a role in neuronal development and synaptic function in the brain. It is predominantly expressed in the brain, specifically in regions such as the hippocampus and cerebral cortex.

Mutations in the IL1RAPL1 gene have been associated with X-linked intellectual disability (XLID). The specific mechanisms by which these mutations lead to cognitive impairment are not fully understood, but are believed to involve disruptions in neuronal signaling and synaptic plasticity.

Further research is ongoing to fully elucidate the function of IL1RAPL1 and its role in brain development and intellectual disability. Identifying the specific protein interactions and downstream signaling pathways regulated by IL1RAPL1 is critical for understanding the pathogenesis of IL1RAPL1-related XLID and for developing potential therapeutic interventions.