Intraflagellar transport protein 80 homolog (IFT80), also known as WD repeat-containing protein 56, is a protein that in humans is encoded by the IFT80 gene.[5][6]

IFT80
Identifiers
AliasesIFT80, ATD2, SRTD2, WDR56, intraflagellar transport 80, FAP167
External IDsOMIM: 611177; MGI: 1915509; HomoloGene: 12253; GeneCards: IFT80; OMA:IFT80 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020800
NM_001190241
NM_001190242

NM_026641

RefSeq (protein)

NP_001177170
NP_001177171
NP_065851

NP_080917

Location (UCSC)Chr 3: 160.26 – 160.4 MbChr 3: 68.8 – 68.91 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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IFT80 is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia.[5]

Clinical significance

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Mutations in the IFT80 gene are associated with asphyxiating thoracic dysplasia.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000068885Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027778Ensembl, 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. ^ a b "Entrez Gene: intraflagellar transport 80 homolog (Chlamydomonas)".
  6. ^ a b Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ (June 2007). "IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy". Nat. Genet. 39 (6): 727–9. doi:10.1038/ng2038. PMID 17468754. S2CID 8920064.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.