DISEASES

Disease-gene associations mined from literature

Literature associating IFT122 and familial hemophagocytic lymphohistiocytosis 2

IFT122 [ENSP00000296266]

Intraflagellar transport protein 122 homolog; As a 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), it is required in ciliogenesis and ciliary protein trafficking . Involved in cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity).

Synonyms:  IFT122,  IFT122p,  hIFT122,  D6R8Z2,  D6RAF7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM