DISEASES

Disease-gene associations mined from literature

Literature associating IFT88 and short-rib thoracic dysplasia 9 with or without polydactyly

IFT88 [ENSP00000323580]

Recessive polycystic kidney disease protein Tg737 homolog; Involved in primary cilium biogenesis. Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment; Intraflagellar transport proteins

Synonyms:  IFT88,  IFT88p,  hIFT88,  F5H6C2,  F6SRW8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM