FRMD7
FERM domain containing 7
Normal Function
Health Conditions Related to Genetic Changes
X-linked infantile nystagmus
More than 35 mutations in the FRMD7 gene have been found to cause X-linked infantile nystagmus. Most of these mutations change single protein building blocks (amino acids) in the FRMD7 protein. Mutations in the FRMD7 gene likely lead to the production of a protein that is unstable and that cannot perform its normal function. A lack of functional FRMD7 protein is thought to disrupt the development of nerve cells in the retina and areas of the brain that control eye movement. Abnormal development of these nerve cells likely causes the involuntary side-to-side eye movements that are characteristic of X-linked infantile nystagmus.
More About This Health ConditionRelated Conditions
X-linked infantile nystagmus
Health Conditions Related to Genetic Changes
More than 35 mutations in the FRMD7 gene have been found to cause X-linked infantile nystagmus. Most of these mutations change single protein building blocks (amino acids) in the FRMD7 protein. Mutations in the FRMD7 gene likely lead to the production of a protein that is unstable and that cannot perform its normal function. A lack of functional FRMD7 protein is thought to disrupt the development of nerve cells in the retina and areas of the brain that control eye movement. Abnormal development of these nerve cells likely causes the involuntary side-to-side eye movements that are characteristic of X-linked infantile nystagmus.