CFAP418

cilia and flagella associated protein 418

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000156172
UniProt:: Q96NL8
OMIM:: 614477
Synonyms:: BBS21, C8ORF37, CORD16, FAP418, FLJ30600, MOT25., RP64, SMALLTALK

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

References: PMID:37971880, PMID:22177090, PMID:27008867, PMID:26854863, PMID:25802487

Subcellular localization

basal body, cilia

References: PMID:41005307, PMID:22177090, PMID:27008867

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).

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