AASS Chromosome 7
Aminoadipate-semialdehyde synthase
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What This Gene Does
This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]
Associated Conditions (2)
Inborn genetic diseases
Hyperlysinemia
Key Variants
RS150922740
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200857543
Conflicting classifications of pathogenicity
Health Risk
RS768275798
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hyperlysinemia, Inborn genetic diseases
Health Risk
RS1027015345
Likely pathogenic
Health Risk
RS1473312640
Likely pathogenic
Hyperlysinemia, Hyperlysinemia
Health Risk
RS2485979609
Likely pathogenic
Hyperlysinemia, Hyperlysinemia
Health Risk
RS587777125
Likely pathogenic
Hyperlysinemia, Hyperlysinemia
Health Risk
RS761154340
Likely pathogenic
Hyperlysinemia, Hyperlysinemia
Health Risk
RS768943469
Likely pathogenic
Health Risk
RS779793755
Likely pathogenic
Hyperlysinemia, Hyperlysinemia
Health Risk
RS1795110728
Pathogenic
Hyperlysinemia, Hyperlysinemia
Health Risk
RS2150511876
Pathogenic
Hyperlysinemia, Hyperlysinemia
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150922740 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200857543 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768275798 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hyperlysinemia, Inborn genetic diseases |
| RS1027015345 | Health Risk | Likely pathogenic | — |
| RS1473312640 | Health Risk | Likely pathogenic | Hyperlysinemia, Hyperlysinemia |
| RS2485979609 | Health Risk | Likely pathogenic | Hyperlysinemia, Hyperlysinemia |
| RS587777125 | Health Risk | Likely pathogenic | Hyperlysinemia, Hyperlysinemia |
| RS761154340 | Health Risk | Likely pathogenic | Hyperlysinemia, Hyperlysinemia |
| RS768943469 | Health Risk | Likely pathogenic | — |
| RS779793755 | Health Risk | Likely pathogenic | Hyperlysinemia, Hyperlysinemia |
| RS1795110728 | Health Risk | Pathogenic | Hyperlysinemia, Hyperlysinemia |
| RS2150511876 | Health Risk | Pathogenic | Hyperlysinemia, Hyperlysinemia |
| RS387906333 | Health Risk | Pathogenic | Hyperlysinemia, Hyperlysinemia |
| RS587777121 | Health Risk | Pathogenic | Hyperlysinemia, Hyperlysinemia |
| RS587777122 | Health Risk | Pathogenic | Hyperlysinemia, Hyperlysinemia |
| RS587777123 | Health Risk | Pathogenic | Hyperlysinemia, Hyperlysinemia |
| RS587777124 | Health Risk | Pathogenic | Hyperlysinemia, Hyperlysinemia |
| RS587777126 | Health Risk | Pathogenic | Hyperlysinemia, Hyperlysinemia |
| RS760852526 | Health Risk | Pathogenic | — |
| RS745643453 | Health Risk | Pathogenic/Likely pathogenic | Hyperlysinemia, Hyperlysinemia |