FRMD7蛋白抗体

FERM domain containing 7 (FRMD7) is a member of the four-point-one, ezrin, radixin, moesin (FERM) family of proteins. FRMD7 contains a conserved N-terminal FERM domain suggesting that it may provide a link between the plasma membrane and actin cytoskeleton. FRMD7 is a key regulator in establishing a neuronal circuit asymmetry, and it suggests the involvement of a specific inhibitory neuron type in the pathophysiology of neurological disease. FRMD7 mutations are the most frequent causes of X-linked idiopathic congenital nystagmus (ICN) which is an oculomotor disorder caused by the defects in the ocular motor control regions of the brain.