CFAP418

cilia and flagella associated protein 418

Ensembl:
ENSG00000156172
UniProt:
Q96NL8
OMIM:
614477
Synonyms:
BBS21, C8ORF37, CORD16, FAP418, FLJ30600

Cilia effects upon perturbation of CFAP418

Phenotypes

Mouse phenotype:
decreased exploration in new environment
Human ciliopathy phenotype:
retinitis pigmentosa; Bardet-Biedl syndrome

Ciliopathy associations

  • Bardet-Biedl Syndrome
  • Cone-Rod Dystrophy
  • Retinal Dystrophy/Degeneration

Subcellular localization

basal body

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations are associated with cone-rod dystrophy, retinitis pigmentosa (22177090) and Bardet Biedl syndrome (27008867). Studies suggest C8orf37 is involved with primary cilia function and implicated in the development of BBS (27008867).

Model organism evidence

Mus musculus (1 reference)

Syndromic ciliopathies and retinal degenerations are large heterogeneous groups of genetic diseases.

PMIDs: 37971880