SERPINA3 Chromosome 14
Serpin family A member 3
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What This Gene Does
The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jun 2020]
Gene Info
Gene Group
Serpin peptidase inhibitors
Locus Type
gene with protein product
Location
14q32.13
Ensembl
ENSG00000196136
Associated Conditions (2)
SERPINA3-related disorder
ANTICHYMOTRYPSIN BOCHUM 1
Key Variants
RS139747783
Conflicting classifications of pathogenicity
SERPINA3-related disorder, SERPINA3-related disorder
Health Risk
RS144060757
Conflicting classifications of pathogenicity
SERPINA3-related disorder, SERPINA3-related disorder
Health Risk
RS1800463
Pathogenic
ANTICHYMOTRYPSIN BOCHUM 1, ANTICHYMOTRYPSIN BOCHUM 1
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139747783 | Health Risk | Conflicting classifications of pathogenicity | SERPINA3-related disorder, SERPINA3-related disorder |
| RS144060757 | Health Risk | Conflicting classifications of pathogenicity | SERPINA3-related disorder, SERPINA3-related disorder |
| RS1800463 | Health Risk | Pathogenic | ANTICHYMOTRYPSIN BOCHUM 1, ANTICHYMOTRYPSIN BOCHUM 1 |