intraflagellar transport protein 52 homolog
The IFT52 gene encodes a protein that is member of the intraflagellar transport complex B. Mutations cause ausotomal recessive Short-rib thoracic dysplasia with or without polydactyly 16.
Girisha KM et al. (2016) A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
Zhang W et al. (2016) IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
Orphanet ID 470484
Update: Aug. 14, 2020