IFT88

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. 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.[http://www.nature.com/nm/journal/vaop/ncurrent/full/nm.2860.html Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model]

IFT88 has been shown to interact with BAT2 and WDR62.{{cite journal | vauthors = Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD, Sanderson CM | title = Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region | journal = Genomics | volume = 83 | issue = 1 | pages = 153–67 | date = Jan 2004 | pmid = 14667819 | doi = 10.1016/S0888-7543(03)00235-0 }} {{cite journal | vauthors = Shohayeb, B, et al. | title = The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development | journal = Hum. Mol. Genet. | volume = 29 | issue = 2 | pages = 248–263 |date=January 2020 | doi = 10.1093/hmg/ddz281 | pmid = 31816041 | doi-access = free }} WDR62 is required for IFT88 localization to the cilia basal body and the cilia axoneme. {{cite journal | vauthors = Shohayeb, B, et al. | title = The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development | journal = Hum. Mol. Genet. | volume = 29 | issue = 2 | pages = 248–263 |date=January 2020 | doi = 10.1093/hmg/ddz281 | pmid = 31816041 | doi-access = free }}

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• {{cite journal | vauthors = Taulman PD, Haycraft CJ, Balkovetz DF, Yoder BK | title = Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia | journal = Mol. Biol. Cell | volume = 12 | issue = 3 | pages = 589–99 | year = 2001 | pmid = 11251073 | pmc = 30966 | doi = 10.1091/mbc.12.3.589 }}
• {{cite journal | vauthors = Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S, Leventhal C, Thornton M, Ramachandran R, Whittington J, Lerner L, Costanzo D, McElligott K, Boozer S, Mays R, Smith E, Veloso N, Klika A, Hess J, Cothren K, Lo K, Offenbacher J, Danzig J, Ducar M | title = Creation of genome-wide protein expression libraries using random activation of gene expression | journal = Nat. Biotechnol. | volume = 19 | issue = 5 | pages = 440–5 | year = 2001 | pmid = 11329013 | doi = 10.1038/88107 | s2cid = 25064683 }}
• {{cite journal | vauthors = Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD, Sanderson CM | title = Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region | journal = Genomics | volume = 83 | issue = 1 | pages = 153–67 | year = 2004 | pmid = 14667819 | doi = 10.1016/S0888-7543(03)00235-0 }}
• {{cite journal | vauthors = Khanna H, Hurd TW, Lillo C, Shu X, Parapuram SK, He S, Akimoto M, Wright AF, Margolis B, Williams DS, Swaroop A | title = RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins | journal = J. Biol. Chem. | volume = 280 | issue = 39 | pages = 33580–7 | year = 2005 | pmid = 16043481 | pmc = 1249479 | doi = 10.1074/jbc.M505827200 | doi-access = free }}
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