MID1
midline 1
Normal Function
Health Conditions Related to Genetic Changes
Opitz G/BBB syndrome
About 90 mutations in the MID1 gene have been found to cause Opitz G/BBB syndrome. This condition causes several abnormalities along the midline of the body, including widely spaced eyes (ocular hypertelorism), difficulty breathing or swallowing, brain malformations, distinct facial features, and genital abnormalities in males. The majority of the MID1 gene mutations change a single protein building block (amino acid) in the midline-1 protein. Other mutations delete multiple amino acids and can result in the production of an abnormally short protein. These mutations lead to a decrease in midline-1 function, which prevents protein recycling. As a result, certain proteins are not recycled, and they accumulate in cells. This buildup impairs microtubule function, resulting in problems with cell division and migration. Researchers speculate that the altered midline-1 protein affects how the cells divide and migrate along the midline of the body during development, resulting in the features of Opitz G/BBB syndrome.
More About This Health ConditionRelated Conditions
Opitz G/BBB syndrome
Health Conditions Related to Genetic Changes
About 90 mutations in the MID1 gene have been found to cause Opitz G/BBB syndrome. This condition causes several abnormalities along the midline of the body, including widely spaced eyes (ocular hypertelorism), difficulty breathing or swallowing, brain malformations, distinct facial features, and genital abnormalities in males. The majority of the MID1 gene mutations change a single protein building block (amino acid) in the midline-1 protein. Other mutations delete multiple amino acids and can result in the production of an abnormally short protein. These mutations lead to a decrease in midline-1 function, which prevents protein recycling. As a result, certain proteins are not recycled, and they accumulate in cells. This buildup impairs microtubule function, resulting in problems with cell division and migration. Researchers speculate that the altered midline-1 protein affects how the cells divide and migrate along the midline of the body during development, resulting in the features of Opitz G/BBB syndrome.