Intraflagellar transport protein 43 homolog
The IFT43 gene encodes a subunit of the intraflagellar transport complex A (IFT-A) which plays a role in cilia assambly. Mutations cause autosomal recessive cranioectodermal dysplasia 3.
Walczak-Sztulpa J et. al. (2010) Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
Gilissen C et. al. (2010) Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
Arts HH et. al. (2011) C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
Update: Sept. 26, 2018