CFAP20 Chromosome 16
Cilia and flagella associated protein 20
Upload your DNA to see your personal genotypes for variants in CFAP20.
What This Gene Does
Enables RNA binding activity. Involved in several processes, including positive regulation of feeding behavior; protein polyglutamylation; and regulation of cilium beat frequency involved in ciliary motility. Located in microtubule cytoskeleton and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Cilia and flagella associated
Locus Type
gene with protein product
Location
16q21
Ensembl
ENSG00000070761
Associated Conditions (1)
Rod-cone dystrophy
Key Variants
RS1377392375
Likely pathogenic
Rod-cone dystrophy, Rod-cone dystrophy
Health Risk
RS1487548809
Likely pathogenic
Rod-cone dystrophy, Rod-cone dystrophy
Health Risk
RS2543436772
Likely pathogenic
Rod-cone dystrophy, Rod-cone dystrophy
Health Risk
RS755182323
Likely pathogenic
Rod-cone dystrophy, Rod-cone dystrophy
Health Risk
RS767928662
Likely pathogenic
Rod-cone dystrophy, Rod-cone dystrophy
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1377392375 | Health Risk | Likely pathogenic | Rod-cone dystrophy, Rod-cone dystrophy |
| RS1487548809 | Health Risk | Likely pathogenic | Rod-cone dystrophy, Rod-cone dystrophy |
| RS2543436772 | Health Risk | Likely pathogenic | Rod-cone dystrophy, Rod-cone dystrophy |
| RS755182323 | Health Risk | Likely pathogenic | Rod-cone dystrophy, Rod-cone dystrophy |
| RS767928662 | Health Risk | Likely pathogenic | Rod-cone dystrophy, Rod-cone dystrophy |