EOGT is a gene that produces a protein essential for modifying the function of various other proteins in the cell, allowing them to operate effectively and properly. These proteins play an important role in the interaction between cells and between the cells and the environment surrounding them. EOGT is expressed in several tissues, including heart, lung, liver, spleen, skeletal muscles and limbs.
EOGT mutations cause the characteristic signs and symptoms described in the Clinical Characteristics section.