CFAP61 Chromosome 20
Cilia and flagella associated protein 61
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What This Gene Does
Involved in sperm flagellum assembly. Predicted to be located in motile cilium and radial spoke stalk. Predicted to be active in sperm flagellum. Implicated in spermatogenic failure 84. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Cilia and flagella associated
Locus Type
gene with protein product
Location
20p11.23
Ensembl
ENSG00000089101
Associated Conditions (1)
Spermatogenic failure 84
Key Variants
RS199790525
Conflicting classifications of pathogenicity
Health Risk
RS115717092
Pathogenic
Spermatogenic failure 84, Spermatogenic failure 84
Health Risk
RS116775353
Pathogenic
Spermatogenic failure 84, Spermatogenic failure 84
Health Risk
RS201899206
Pathogenic
Spermatogenic failure 84, Spermatogenic failure 84
Health Risk
RS2515793320
Pathogenic
Spermatogenic failure 84, Spermatogenic failure 84
Health Risk
RS2515805050
Pathogenic
Spermatogenic failure 84, Spermatogenic failure 84
Health Risk
RS370567248
Pathogenic
Spermatogenic failure 84, Spermatogenic failure 84
Health Risk
RS766465847
Pathogenic
Spermatogenic failure 84, Spermatogenic failure 84
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199790525 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS115717092 | Health Risk | Pathogenic | Spermatogenic failure 84, Spermatogenic failure 84 |
| RS116775353 | Health Risk | Pathogenic | Spermatogenic failure 84, Spermatogenic failure 84 |
| RS201899206 | Health Risk | Pathogenic | Spermatogenic failure 84, Spermatogenic failure 84 |
| RS2515793320 | Health Risk | Pathogenic | Spermatogenic failure 84, Spermatogenic failure 84 |
| RS2515805050 | Health Risk | Pathogenic | Spermatogenic failure 84, Spermatogenic failure 84 |
| RS370567248 | Health Risk | Pathogenic | Spermatogenic failure 84, Spermatogenic failure 84 |
| RS766465847 | Health Risk | Pathogenic | Spermatogenic failure 84, Spermatogenic failure 84 |