EPB41L1 Antibody

Band 4.1-like protein 1 is a protein that in humans is encoded by the EPB41L1 gene. This gene is mapped to 20q11.23. 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. Additionally, EPB41L1 is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane.