PHOX2A
paired like homeobox 2A
Normal Function
Health Conditions Related to Genetic Changes
Congenital fibrosis of the extraocular muscles
At least four mutations in the PHOX2A gene can cause congenital fibrosis of the extraocular muscles (CFEOM). These mutations are responsible for a form of the disorder called CFEOM2, which has been identified in several families of Middle Eastern descent.
Most of the mutations that cause CFEOM2 result in the production of an abnormally short, nonfunctional version of the PHOX2A protein. A lack of this protein prevents the normal development of several cranial nerves and the extraocular muscles they control. Abnormal development and function of these muscles leads to the characteristic features of the disorder, including restricted eye movement and related problems with vision. Although the PHOX2A protein plays an important role in autonomic nervous system development, PHOX2A mutations do not seem to affect the function of this part of the nervous system.
More About This Health ConditionRelated Conditions
Congenital fibrosis of the extraocular muscles
Health Conditions Related to Genetic Changes
At least four mutations in the PHOX2A gene can cause congenital fibrosis of the extraocular muscles (CFEOM). These mutations are responsible for a form of the disorder called CFEOM2, which has been identified in several families of Middle Eastern descent.
Most of the mutations that cause CFEOM2 result in the production of an abnormally short, nonfunctional version of the PHOX2A protein. A lack of this protein prevents the normal development of several cranial nerves and the extraocular muscles they control. Abnormal development and function of these muscles leads to the characteristic features of the disorder, including restricted eye movement and related problems with vision. Although the PHOX2A protein plays an important role in autonomic nervous system development, PHOX2A mutations do not seem to affect the function of this part of the nervous system.