This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011].
Stadler, Hjelmare, Neumann, Jonasson, Pepperkok, Uhlén, Lundberg: "Systematic validation of antibody binding and protein subcellular localization using siRNA and confocal microscopy." in: Journal of proteomics, Vol. 75, Issue 7, pp. 2236-51, (2012) (PubMed).
Aliases for IFT43 抗体
intraflagellar transport 43 (IFT43) 抗体 intraflagellar transport 43 (Ift43) 抗体 intraflagellar transport 43 L homeolog (ift43.L) 抗体 intraflagellar transport 43 homolog (Chlamydomonas) (IFT43) 抗体 1700019E19Rik 抗体 C10H14orf179 抗体 C14orf179 抗体 c14orf179 抗体 CED3 抗体 R75064 抗体 RGD1307392 抗体