EOGT
EGF domain specific O-linked N-acetylglucosamine transferase
Normal Function
Health Conditions Related to Genetic Changes
Adams-Oliver syndrome
At least three mutations in the EOGT gene have been found in individuals with Adams-Oliver syndrome. This condition is characterized by areas of missing skin (aplasia cutis congenita), usually on the scalp, and malformations of the hands and feet. The most common EOGT gene mutation involved in this condition, which is found in the Arab population, leads to an abnormally short protein. The other mutations change single protein building blocks (amino acids) in the EOGT protein. Research suggests that the EOGT gene mutations reduce or eliminate the protein's ability to transfer N-acetylglucosamine. It is unknown what effect this impairment has on cells or how it leads to the features of Adams-Oliver syndrome.
More About This Health ConditionRelated Conditions
Adams-Oliver syndrome
Health Conditions Related to Genetic Changes
At least three mutations in the EOGT gene have been found in individuals with Adams-Oliver syndrome. This condition is characterized by areas of missing skin (aplasia cutis congenita), usually on the scalp, and malformations of the hands and feet. The most common EOGT gene mutation involved in this condition, which is found in the Arab population, leads to an abnormally short protein. The other mutations change single protein building blocks (amino acids) in the EOGT protein. Research suggests that the EOGT gene mutations reduce or eliminate the protein's ability to transfer N-acetylglucosamine. It is unknown what effect this impairment has on cells or how it leads to the features of Adams-Oliver syndrome.