CFAP410
cilia and flagella associated protein 410
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000160226
- UniProt:
- O43822
- OMIM:
- 603191
- Synonyms:
- A2, C21ORF2, LRRC76, YF5
Cilia effects upon perturbation of CFAP410
- Cilia number / % ciliated:
- Decreased cilia number
Phenotypes
- Human ciliopathy phenotype:
- cone-rod dystrophy
Ciliopathy associations
- Cone-Rod Dystrophy
- Retinal Dystrophy/Degeneration
- Skeletal Ciliopathy
- Spondylometaphyseal Dysplasia
References: PMID:37901396, PMID:26294103, PMID:26974433, PMID:40246852
Subcellular localization
basal body, transition zone
References: PMID:41005307, PMID:21289087
Functional category
- Ciliary assembly/disassembly
- Signaling (Hedgehog, GPCRs, ion channels)
- Transition zone
Function
C21orf2. It may play roles in cilia formation and/or maintenance (21289087). Mutated in both syndromic and non-syndromic retinal degeneration. It is part of a of a ciliary functional complex that includes NEK1, C21orf2 and retinal ciliopathy protein SPATA7, where C21orf2 might represent a substrate of NEK1