SERPINA6 Chromosome 14
Serpin family A member 6
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What This Gene Does
This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Serpin peptidase inhibitors
Locus Type
gene with protein product
Location
14q32.13
Ensembl
ENSG00000170099
Associated Conditions (2)
Corticosteroid-binding globulin deficiency
SERPINA6-related disorder
Key Variants
RS113418909
Conflicting classifications of pathogenicity
Corticosteroid-binding globulin deficiency, SERPINA6-related disorder, Corticosteroid-binding globulin deficiency
Health Risk
RS28929488
Conflicting classifications of pathogenicity
Corticosteroid-binding globulin deficiency, SERPINA6-related disorder, Corticosteroid-binding globulin deficiency
Health Risk
RS771441863
Likely pathogenic
Corticosteroid-binding globulin deficiency, Corticosteroid-binding globulin deficiency
Health Risk
RS777245398
Pathogenic
Corticosteroid-binding globulin deficiency, Corticosteroid-binding globulin deficiency
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113418909 | Health Risk | Conflicting classifications of pathogenicity | Corticosteroid-binding globulin deficiency, SERPINA6-related disorder, Corticosteroid-binding globulin deficiency |
| RS28929488 | Health Risk | Conflicting classifications of pathogenicity | Corticosteroid-binding globulin deficiency, SERPINA6-related disorder, Corticosteroid-binding globulin deficiency |
| RS771441863 | Health Risk | Likely pathogenic | Corticosteroid-binding globulin deficiency, Corticosteroid-binding globulin deficiency |
| RS777245398 | Health Risk | Pathogenic | Corticosteroid-binding globulin deficiency, Corticosteroid-binding globulin deficiency |