IFT80

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IFT80
Identifiers
Aliases IFT80, ATD2, SRTD2, WDR56, intraflagellar transport 80
External IDs MGI: 1915509 HomoloGene: 12253 GeneCards: IFT80
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020800
NM_001190241
NM_001190242

NM_026641

RefSeq (protein)

NP_001177170
NP_001177171
NP_065851

NP_080917.1
NP_080917

Location (UCSC) Chr 3: 160.26 – 160.4 Mb Chr 3: 68.89 – 69 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[3][4]

Function[edit]

IFT80 is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia.[3]

Clinical significance[edit]

Mutations in the IFT80 gene are associated with asphyxiating thoracic dysplasia.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: intraflagellar transport 80 homolog (Chlamydomonas)". 
  4. ^ 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. 

Further reading[edit]

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