Literature associating IFT140 and Beemer-Langer syndrome
Intraflagellar transport protein 140 homolog; Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein- coupled receptors (GPCRs) . Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance . 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). ECO:0000269|PubMed:20889716, ECO:0000269|PubMed:22503633,
Synonyms: IFT140, IFT140p, hIFT140, H3BNC5, H3BTA5 ...