CFAP418 - cilia and flagella associated protein 418 Gene

种属: Homo sapiens (human)

同用名: RP64; BBS21; MOT25; CORD16; FAP418; C8orf37; smalltalk

关于 CFAP418

功能概要

This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]