Sensory

GJB2 on chromosome 13q12.11 encodes connexin 26, a protein that assembles into gap junction channels connecting neighboring cells....

USH2A on chromosome 1q41 encodes usherin, a very large protein found in the basement membranes of many tissues and at the pericili...

OPA1 on chromosome 3q29 encodes a dynamin related GTPase of the mitochondrial inner membrane that drives fusion of the inner membr...

RHO on chromosome 3q22.1 encodes rhodopsin, the light sensitive pigment of the rod photoreceptors, made up of the protein opsin bo...

RPE65 on chromosome 1p31.3 encodes an isomerohydrolase in the retinal pigment epithelium that converts all trans retinyl esters in...

ABCA4 on chromosome 1p22.1 encodes an ATP binding cassette transporter located in the disc membranes of rod and cone outer segment...

OTOF on chromosome 2p23.3 encodes otoferlin, a calcium sensing protein at the ribbon synapses of the inner hair cells of the cochl...