IFT88
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Intraflagellar transport protein 88 homolog is a protein that is encoded by the IFT88 gene.[5][6]
External IDsOMIM: 600595; MGI: 98715; HomoloGene: 4761; GeneCards: IFT88; OMA:IFT88 - orthologs
Function
This gene 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.[6] In 2012 a mutation was found to be responsible for a novel form of ciliopathy and anosmia in humans capable of remedy in mice by adenoviral mediated gene therapy.[7]
