DISEASES

Disease-gene associations mined from literature

Literature associating IFT81 and hereditary spastic paraplegia 36

IFT81 [ENSP00000242591]

Intraflagellar transport protein 81 homolog; 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 . Required for proper regulation of SHH signaling . ; Belongs to the IFT81 family.

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

Linkouts:  STRING  Pharos  UniProt  OMIM