ASTL astacin like metalloendopeptidase
Gene ID: 431705, updated on 2-Nov-2024Gene type: protein coding
Also known as: SAS1B; OOMD11; OZEMA11
- See all available tests in GTR for this gene
- Go to complete Gene record for ASTL
- Go to Variation Viewer for ASTL variants
Summary
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, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Oocyte maturation defect 11 | not available |
Genomic context
- Location:
- 2q11.2
- Sequence:
- Chromosome: 2; NC_000002.12 (96122818..96138564, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ASTL variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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