ILDR1


Description

The ILDR1 (immunoglobulin like domain containing receptor 1) is a protein-coding gene located on chromosome 3.

ILDR1 plays a crucial role in maintaining epithelial barrier function by recruiting MARVELD2/tricellulin to tricellular tight junctions (tTJs). This protein is essential for normal hearing, ensuring the structural and functional integrity of tTJs, which are critical for the survival of auditory neurosensory cells. ILDR1 also mediates the secretion of CCK/cholecystokinin in the small intestine, stimulated by fatty acids and lipoproteins. In the inner ear, it may regulate alternative pre-mRNA splicing by binding to TRA2A, TRA2B, and SRSF1.

ILDR1 is also known as DFNB42, ILDR1alpha, ILDR1alpha', ILDR1beta.

Associated Diseases


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