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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).
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: IFT complex A subunit; intraflagellar transport 43 homolog; Intraflagellar transport protein 43 homolog
基因别名: 1700019E19Rik; C14orf179; CED3; IFT43; R75064; RGD1307392
UniProt ID: (Human) Q96FT9, (Mouse) Q9DA69
Entrez Gene ID: (Human) 112752, (Mouse) 76411, (Rat) 299209