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IFT88

From Wikipedia, the free encyclopedia
IFT88
Identifiers
AliasesIFT88, D13S1056E, DAF19, TG737, TTC10, hTg737, intraflagellar transport 88
External IDsOMIM: 600595; MGI: 98715; HomoloGene: 4761; GeneCards: IFT88; OMA:IFT88 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_009376

RefSeq (protein)
Location (UCSC)Chr 13: 20.57 – 20.69 MbChr 14: 57.66 – 57.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Intraflagellar transport protein 88 homolog is a protein that is encoded by the IFT88 gene.[5][6]

Function

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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]

Interactions

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IFT88 has been shown to interact with BAT2 and WDR62.[8][9] WDR62 is required for IFT88 localization to the cilia basal body and the cilia axoneme. [10]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000032742Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040040Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Schrick JJ, Onuchic LF, Reeders ST, Korenberg J, Chen XN, Moyer JH, Wilkinson JE, Woychik RP (Sep 1995). "Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene". Hum. Mol. Genet. 4 (4): 559–67. doi:10.1093/hmg/4.4.559. PMID 7633404.
  6. ^ a b "Entrez Gene: IFT88 intraflagellar transport 88 homolog (Chlamydomonas)".
  7. ^ Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model
  8. ^ Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD, Sanderson CM (Jan 2004). "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". Genomics. 83 (1): 153–67. doi:10.1016/S0888-7543(03)00235-0. PMID 14667819.
  9. ^ Shohayeb, B, et al. (January 2020). "The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development". Hum. Mol. Genet. 29 (2): 248–263. doi:10.1093/hmg/ddz281. PMID 31816041.
  10. ^ Shohayeb, B, et al. (January 2020). "The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development". Hum. Mol. Genet. 29 (2): 248–263. doi:10.1093/hmg/ddz281. PMID 31816041.

Further reading

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