CRELD1: Proteins and Enzymes

The CRELDs are integral membrane proteins that function as cell adhesion molecules. They are alternatively spliced and are ubiquitously expressed during development and in mature tissues. Missense mutations in CRELD1 increase susceptibility to atrioventricular septal defects (AVSD), while CRELD2 has been shown to interact with the alpha 4 subunit of the nicotinic acetylcholine receptor and function as a specific regulator of receptor expression.