DISEASES

Disease-gene associations mined from literature

Literature associating C5orf42 and Johanson-Blizzard syndrome

C5orf42 [ENSP00000389014]

Chromosome 5 open reading frame 42; Involved in ciliogenesis. Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) complex. Involved in recruitment of peripheral IFT-A proteins to basal bodies (By similarity).

Synonyms:  C5orf42,  C5orf42p,  hC5orf42,  C5ORF42,  H0Y9I8 ...

Linkouts:  STRING  Pharos  UniProt