IFT88
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Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Intraflagellar transport protein 88 homolog is a protein that is encoded by the IFT88 gene.[1][2]
Function
[edit | edit source]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.[2] 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.[3]
Interactions
[edit | edit source]IFT88 has been shown to interact with BAT2 and WDR62.[4][5] WDR62 is required for IFT88 localization to the cilia basal body and the cilia axoneme. [6]
References
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- ^ Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model
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Further reading
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