IL31RA gene
The IL31RA gene provides instructions for creating a protein subunit essential for the IL-31 receptor, which plays a key role in signaling itch and inflammation.
Normal Function
The IL31RA gene provides instructions for making a protein called interleukin-31 receptor alpha subunit (IL-31RA). This protein is a component of the IL-31 receptor, which is embedded in the cell membrane of various cell types throughout the body.
At the cell surface, the IL-31 receptor interacts with a protein called interleukin 31 (IL-31). The receptor and IL-31 function like a lock and key, triggering chemical signals inside the cell. These signals stimulate itching (pruritus) and an immune system response known as inflammation, though the exact mechanism is not fully understood.
Health Conditions Related to Genetic Changes
Primary localized cutaneous amyloidosis
At least one mutation in the IL31RA gene has been linked to primary localized cutaneous amyloidosis (PLCA) type 2, an itchy skin condition characterized by the buildup of abnormal protein clumps called amyloids. This specific mutation replaces the amino acid serine with phenylalanine at position 521 (Ser521Phe or S521F). This change occurs in a region of the protein that interacts with the other subunit of the IL-31 receptor, potentially impairing the receptor's formation.
While this mutation reduces the chemical signals triggered by IL-31, it remains unclear how this reduction contributes to the sensation of itchy skin or the accumulation of amyloids.
Other Names for This Gene
- class I cytokine receptor
- CRL
- CRL3
- cytokine receptor-like 3
- GLM-R
- GLMR
- gp130-like monocyte receptor
- GPL
- hGLM-R
- IL-31 receptor subunit alpha
- IL-31R subunit alpha
- IL-31RA
- PLCA2
- PRO21384
- soluble type I cytokine receptor CRL3
- zcytoR17