Disease-gene associations mined from literature

Literature associating IFT140 and Beemer-Langer syndrome

IFT140 [ENSP00000406012]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM