M1AP Chromosome 2
Meiosis 1 associated protein
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What This Gene Does
This gene encodes a protein that is likely to function in progression of meiosis. A similar protein in mouse plays a role in gametogenesis in both sexes. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Associated Conditions (4)
Non-obstructive azoospermia
Spermatogenic failure 48
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Spermatogenesis maturation arrest
Key Variants
RS144217347
Conflicting classifications of pathogenicity
Non-obstructive azoospermia, Spermatogenic failure 48, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS563816801
Likely pathogenic, low penetrance
Spermatogenic failure 48, Spermatogenic failure 48
Health Risk
RS1677697539
Pathogenic
Spermatogenesis maturation arrest, Spermatogenic failure 48, Spermatogenesis maturation arrest
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144217347 | Health Risk | Conflicting classifications of pathogenicity | Non-obstructive azoospermia, Spermatogenic failure 48, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS563816801 | Health Risk | Likely pathogenic, low penetrance | Spermatogenic failure 48, Spermatogenic failure 48 |
| RS1677697539 | Health Risk | Pathogenic | Spermatogenesis maturation arrest, Spermatogenic failure 48, Spermatogenesis maturation arrest |