FRMD7

FERM domain containing 7

The FRMD7 gene provides instructions for making a protein whose exact function is unknown. This protein is found in many tissues, but it is most abundant in areas of the brain that control eye movement (such as the midbrain and cerebellum) and in the light-sensitive tissue at the back of the eye (retina). The FRMD7 protein likely plays a role in the development of nerve cells in these areas of the brain and the retina.

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.

Cytogenetic Location: Xq26.2, which is the long (q) arm of the X chromosome at position 26.2

Molecular Location: base pairs 132,076,986 to 132,128,022 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq26.2, which is the long (q) arm of the X chromosome at position 26.2
  • FRMD7_HUMAN
  • NYS1