Description
Erythrocyte membrane protein band 4.1 like 1 is a protein that in humans is encoded by the EPB41L1 gene. It is found that a heterozygous missense mutation in the gene causes nonsyndromic intellectual disability. This gene may function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases. EPB41L1 has been shown to interact with ITPR1, Dopamine receptor D2, Dopamine receptor D3, CENTG1 and Nuclear mitotic apparatus protein 1