IFT80

Jump to: navigation, search
VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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.[1][2]

Function

IFT80 is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia.[1]

Clinical significance

Mutations in the IFT80 gene are associated with asphyxiating thoracic dysplasia.[2]

References

  1. 1.0 1.1 "Entrez Gene: intraflagellar transport 80 homolog (Chlamydomonas)".
  2. 2.0 2.1 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.

Further reading

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




Linked-in.jpg