Literature associating IFT140 and short-rib thoracic dysplasia 6 with or without polydactyly
Intraflagellar transport protein 140 homolog; Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Plays a pivotal role in proper development and function of ciliated cells. Involved in ciliogenesis and cilia maintenance. May play a role in ciliary assembly. Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells (By similarity); Intraflagellar transport proteins
Synonyms: IFT140, IFT140p, hIFT140, DKFZP564L232, H3BNC5 ...