IFT88

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Intraflagellar transport 88 homolog (Chlamydomonas)
Identifiers
Symbols IFT88 ; D13S1056E; DAF19; TG737; TTC10; hTg737
External IDs OMIM600595 MGI98715 HomoloGene4761 GeneCards: IFT88 Gene
RNA expression pattern
PBB GE IFT88 204703 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8100 21821
Ensembl ENSG00000032742 ENSMUSG00000040040
UniProt Q13099 Q61371
RefSeq (mRNA) NM_006531 NM_009376
RefSeq (protein) NP_006522 NP_033402
Location (UCSC) Chr 13:
21.14 – 21.27 Mb
Chr 14:
57.42 – 57.52 Mb
PubMed search [1] [2]

Intraflagellar transport protein 88 homolog is a protein that in humans is encoded by the IFT88 gene.[1][2]

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]

IFT88 has been shown to interact with BAT2.[4]

References[edit]

  1. ^ 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): 559–567. doi:10.1093/hmg/4.4.559. PMID 7633404. 
  2. ^ a b "Entrez Gene: IFT88 intraflagellar transport 88 homolog (Chlamydomonas)". 
  3. ^ Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model
  4. ^ Lehner, Ben; Semple Jennifer I; Brown Stephanie E; Counsell Damian; Campbell R Duncan; Sanderson Christopher M (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 (United States) 83 (1): 153–167. doi:10.1016/S0888-7543(03)00235-0. ISSN 0888-7543. PMID 14667819. 

Further reading[edit]