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. 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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM