AP1B1

Molecular characteristics

AP1B1 is a gene that codes for a protein that is responsible for carrying ATP7A from the inside of intestinal cells to its outer membrane which is facing a blood vessel. There, ATP7A function is to transport copper from the cell and into the blood. This plays an important function in regulating the copper levels in the blood. Mutations in AP1B1 may therefore disrupt the copper metabolism in the body and lead to the signs and symptoms described in the Clinical Characteristics Section.