IFT43, encoded by C14ORF179, is a subunit of the intraflagellar transport complex A (IFT-A) of primary cilia. The IFT-A is implicated in retrograde ciliary transport along axonemal microtubules. Defects in subunits of IFT-A has been associated with skeletal ciliopathies, including Sensenbrenner syndrome, Jeune syndrome, and Ellis-van-Creveld syndrome. Mutations in C14ORF179 has been linked to Sensenbrenner syndrome. (21378380).
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Protein Aliases: IFT complex A subunit; intraflagellar transport 43 homolog; Intraflagellar transport protein 43 homolog
Gene Aliases: C14orf179; CED3; IFT43
UniProt ID: (Human) Q96FT9
Entrez Gene ID: (Human) 112752