PMFBP1 Chromosome 16
Polyamine modulated factor 1 binding protein 1
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What This Gene Does
Involved in spermatogenesis. Located in sperm head-tail coupling apparatus. Implicated in spermatogenic failure 31. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (1)
Spermatogenic failure 31
Key Variants
RS767705612
Likely pathogenic
Spermatogenic failure 31, Spermatogenic failure 31
Health Risk
RS1567621034
Pathogenic
Spermatogenic failure 31, Spermatogenic failure 31
Health Risk
RS759127010
Pathogenic
Spermatogenic failure 31, Spermatogenic failure 31
Health Risk
RS763272588
Pathogenic
Spermatogenic failure 31, Spermatogenic failure 31
Health Risk
RS769554360
Pathogenic
Spermatogenic failure 31, Spermatogenic failure 31
Health Risk
RS772371753
Pathogenic
Spermatogenic failure 31, Spermatogenic failure 31
Health Risk
RS777263062
Pathogenic
Spermatogenic failure 31, Spermatogenic failure 31
Health Risk
RS140352254
Pathogenic/Likely pathogenic
Spermatogenic failure 31, Spermatogenic failure 31
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS767705612 | Health Risk | Likely pathogenic | Spermatogenic failure 31, Spermatogenic failure 31 |
| RS1567621034 | Health Risk | Pathogenic | Spermatogenic failure 31, Spermatogenic failure 31 |
| RS759127010 | Health Risk | Pathogenic | Spermatogenic failure 31, Spermatogenic failure 31 |
| RS763272588 | Health Risk | Pathogenic | Spermatogenic failure 31, Spermatogenic failure 31 |
| RS769554360 | Health Risk | Pathogenic | Spermatogenic failure 31, Spermatogenic failure 31 |
| RS772371753 | Health Risk | Pathogenic | Spermatogenic failure 31, Spermatogenic failure 31 |
| RS777263062 | Health Risk | Pathogenic | Spermatogenic failure 31, Spermatogenic failure 31 |
| RS140352254 | Health Risk | Pathogenic/Likely pathogenic | Spermatogenic failure 31, Spermatogenic failure 31 |