Intraflagellar Transport Protein 43 (IFT43)

Defects in IFT43 are a cause of cranioectodermal dysplasia type 1 (CED1). CED1 is a disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails. Intraflagellar transport or IFT is the cellular process essential for the formation and maintenance of eukaryotic cilia and flagella. IFT, first discovered in 1993 by graduate student Keith Kozminski while working in the lab of Dr. Joel Rosenbaum at Yale University, is phylogenically well-conserved, and it seems to be present in the cilia and flagella of most species, with Plasmodium falciparum being a notable exception.