CFAP44 Chromosome 3
Cilia and flagella associated protein 44
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What This Gene Does
Enables peptidase activity. Involved in sperm axoneme assembly. Acts upstream of or within microtubule cytoskeleton organization. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Implicated in spermatogenic failure 20. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"WD repeat domain containing|Cilia and flagella associated|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
3q13.2
Ensembl
ENSG00000206530
Associated Conditions (3)
Inborn genetic diseases
CFAP44-related disorder
Spermatogenic failure 20
Key Variants
RS140307657
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141847284
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143011495
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149077800
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150695313
Conflicting classifications of pathogenicity
CFAP44-related disorder, Inborn genetic diseases, CFAP44-related disorder
Health Risk
RS76055909
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS772295550
Conflicting classifications of pathogenicity
Health Risk
RS1422604771
Likely pathogenic
Spermatogenic failure 20, Spermatogenic failure 20
Health Risk
RS1932931896
Likely pathogenic
CFAP44-related disorder, CFAP44-related disorder
Health Risk
RS768429457
Likely pathogenic
Spermatogenic failure 20, Spermatogenic failure 20
Health Risk
RS1262272674
Pathogenic
Spermatogenic failure 20, Spermatogenic failure 20
Health Risk
RS142299289
Pathogenic
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140307657 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141847284 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143011495 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149077800 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150695313 | Health Risk | Conflicting classifications of pathogenicity | CFAP44-related disorder, Inborn genetic diseases, CFAP44-related disorder |
| RS76055909 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772295550 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1422604771 | Health Risk | Likely pathogenic | Spermatogenic failure 20, Spermatogenic failure 20 |
| RS1932931896 | Health Risk | Likely pathogenic | CFAP44-related disorder, CFAP44-related disorder |
| RS768429457 | Health Risk | Likely pathogenic | Spermatogenic failure 20, Spermatogenic failure 20 |
| RS1262272674 | Health Risk | Pathogenic | Spermatogenic failure 20, Spermatogenic failure 20 |
| RS142299289 | Health Risk | Pathogenic | — |
| RS1553756374 | Health Risk | Pathogenic | Spermatogenic failure 20, Spermatogenic failure 20 |
| RS1553756824 | Health Risk | Pathogenic | Spermatogenic failure 20, Spermatogenic failure 20 |
| RS1934205302 | Health Risk | Pathogenic | — |
| RS762760856 | Health Risk | Pathogenic | Spermatogenic failure 20, Spermatogenic failure 20 |
| RS769673594 | Health Risk | Pathogenic | — |
| RS780798708 | Health Risk | Pathogenic | Spermatogenic failure 20, Spermatogenic failure 20 |
| RS866096259 | Health Risk | Pathogenic | Spermatogenic failure 20, CFAP44-related disorder, Spermatogenic failure 20 |