| Primary Identifier | IPR029239 | Type | Family |
| Short Name | CFAP418 |
| description | C8orf37 encodes a ciliary protein known as CFAP418. In humans, mutations in C8orf37 cause two types of retinal dystrophies: cone-rod dystrophy type 16 (CORD16) and retinitis pigmentosa type 64 (RP64). CORD16 affects the cone receptors which detect red, green or blue wavelengths of light, and RP64 affects the cone receptors first and then the rod receptors. Both of these affect the photo-receptors in the eye leading to colour blindness or blindness respectively []. |
