CFAP45 Chromosome 1
Cilia and flagella associated protein 45
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What This Gene Does
Enables AMP binding activity. Involved in establishment of left/right asymmetry and flagellated sperm motility. Located in axonemal microtubule and sperm flagellum. Implicated in visceral heterotaxy 11. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Cilia and flagella associated
Locus Type
gene with protein product
Location
1q23.2
Ensembl
ENSG00000213085
Associated Conditions (5)
Heterotaxy
visceral
11
autosomal
with male infertility
Key Variants
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201144590 | Health Risk | Pathogenic | Heterotaxy, visceral, 11 |
| RS2101839185 | Health Risk | Pathogenic | Heterotaxy, visceral, 11 |
| RS2101847449 | Health Risk | Pathogenic | Heterotaxy, visceral, 11 |
| RS2101848342 | Health Risk | Pathogenic | Heterotaxy, visceral, 11 |