IFT80

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Intraflagellar transport 80 homolog (Chlamydomonas)
Identifiers
Symbols IFT80 ; ATD2; WDR56
External IDs OMIM611177 MGI1915509 HomoloGene12253 GeneCards: IFT80 Gene
Orthologs
Species Human Mouse
Entrez 57560 68259
Ensembl ENSG00000068885 ENSMUSG00000027778
UniProt Q9P2H3 Q8K057
RefSeq (mRNA) NM_001190241 NM_026641
RefSeq (protein) NP_001177170 NP_080917
Location (UCSC) Chr 3:
159.97 – 160.12 Mb
Chr 3:
68.89 – 69 Mb
PubMed search [1] [2]

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[edit]

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

Clinical significance[edit]

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

References[edit]

  1. ^ a b "Entrez Gene: intraflagellar transport 80 homolog (Chlamydomonas)". 
  2. ^ 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.