Intraflagellar Transport Protein 88 (IFT88)

IFT88 encodes a member of the tetratrico peptide repeat (TPR) family. Mutations of a similar gene in mouse can cause polycystic kidney disease. Two transcript variants encoding distinct isoforms have been identified for this gene.The deduced human and mouse proteins share 95% sequence identity and contain a tetratricopeptide repeat motif. A 2.9-kb IFT88 mRNA showed a broad tissue distribution that included the kidney and liver.Pazour et al. (2002) showed that intraflagellar transport particle proteins are localized to photoreceptor connecting cilia. They further found that mice with a mutation in the Tg737 gene had abnormal outer segment development and retinal degeneration. Pazour et al. (2002) concluded that intraflagellar transport is important for assembly and maintenance of the vertebrate outer segment.