Aliases for IFT88 Gene
External Ids for IFT88 Gene
Previous HGNC Symbols for IFT88 Gene
Previous GeneCards Identifiers for IFT88 Gene
This gene encodes a member of the tetratrico peptide repeat (TPR) family. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2017]
GeneCards Summary for IFT88 Gene
IFT88 (Intraflagellar Transport 88) is a Protein Coding gene. Diseases associated with IFT88 include Retinitis Pigmentosa and Polycystic Kidney Disease. Among its related pathways are Signaling by GPCR and Hedgehog signaling events mediated by Gli proteins. Gene Ontology (GO) annotations related to this gene include kinesin binding. An important paralog of this gene is TMTC1.
UniProtKB/Swiss-Prot Summary for IFT88 Gene
Involved in primary cilium biogenesis. Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment.