Disease-gene associations mined from literature

Literature associating IFT81 and asphyxiating thoracic dystrophy 3

IFT81 [ENSP00000242591]

Carnitine deficiency-associated protein expressed in ventricle 1; Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds tubulin via its CH (calponin-homology)-like region. Required for ciliogenesis; Belongs to the IFT81 family.

Synonyms:  IFT81,  IFT81p,  hIFT81,  A0A024RBJ1,  F8W1J4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM