ASTL Chromosome 2
Astacin like metalloendopeptidase
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What This Gene Does
Predicted to enable aspartic-type peptidase activity; glutamic-type peptidase activity; and metalloendopeptidase activity. Predicted to be involved in several processes, including negative regulation of binding activity of sperm to zona pellucida; positive regulation of protein processing; and prevention of polyspermy. Predicted to be located in cortical granule and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Astacins
Locus Type
gene with protein product
Location
2q11.2
Ensembl
ENSG00000188886
Associated Conditions (1)
Oocyte maturation defect 11
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2104773015 | Health Risk | Pathogenic | Oocyte maturation defect 11, Oocyte maturation defect 11 |