CFAP58 Chromosome 10
Cilia and flagella associated protein 58
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What This Gene Does
Involved in protein localization to motile cilium; sperm axoneme assembly; and sperm mitochondrial sheath assembly. Located in sperm midpiece. Implicated in spermatogenic failure 49. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Cilia and flagella associated
Locus Type
gene with protein product
Location
10q25.1
Ensembl
ENSG00000120051
Associated Conditions (1)
Spermatogenic failure 49
Key Variants
RS145302969
Likely pathogenic
Spermatogenic failure 49, Spermatogenic failure 49
Health Risk
RS2013131818
Pathogenic
Spermatogenic failure 49, Spermatogenic failure 49
Health Risk
RS369701921
Pathogenic
Spermatogenic failure 49, Spermatogenic failure 49
Health Risk
RS544826621
Pathogenic
Spermatogenic failure 49, Spermatogenic failure 49
Health Risk
RS761844995
Pathogenic
Spermatogenic failure 49, Spermatogenic failure 49
Health Risk
RS775625613
Pathogenic
Spermatogenic failure 49, Spermatogenic failure 49
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145302969 | Health Risk | Likely pathogenic | Spermatogenic failure 49, Spermatogenic failure 49 |
| RS2013131818 | Health Risk | Pathogenic | Spermatogenic failure 49, Spermatogenic failure 49 |
| RS369701921 | Health Risk | Pathogenic | Spermatogenic failure 49, Spermatogenic failure 49 |
| RS544826621 | Health Risk | Pathogenic | Spermatogenic failure 49, Spermatogenic failure 49 |
| RS761844995 | Health Risk | Pathogenic | Spermatogenic failure 49, Spermatogenic failure 49 |
| RS775625613 | Health Risk | Pathogenic | Spermatogenic failure 49, Spermatogenic failure 49 |