CFAP54
cilia and flagella associated protein 54
Summary
Predicted to be involved in cilium assembly; cilium movement involved in cell motility; and spermatogenesis. Predicted to act upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and sperm flagellum assembly. Predicted to be located in axoneme. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants5 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs751441080 | 12:96,883,453 | A/G | — | likely benign |
| rs12423627 | 12:96,938,142 | T/C | intron variant | — |
| rs183624962 | 12:97,005,056 | G/A | intron variant | — |
| rs530120061 | 12:97,024,415 | G/C | — | likely benign |
| rs547525777 | 12:97,038,178 | G/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.