ASL Chromosome 7
Argininosuccinate lyase
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What This Gene Does
This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Associated Conditions (11)
Argininosuccinate lyase deficiency
Inborn genetic diseases
ASL-related disorder
Familial cancer of breast
Congenital portosystemic shunt
Neurodevelopmental disorder
Autism
Malignant tumor of urinary bladder
Acute myeloid leukemia
Congenital myasthenic syndrome 4C
Sarcoma
Key Variants
RS1057141162
Conflicting classifications of pathogenicity
Health Risk
RS1085307952
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
RS1211112295
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
RS1301059768
Conflicting classifications of pathogenicity
Health Risk
RS1339615185
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
RS1348290958
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
RS1361999742
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
RS139410488
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
RS1397223617
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
RS1405344068
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Inborn genetic diseases, Argininosuccinate lyase deficiency
Health Risk
RS141046612
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
RS141584041
Conflicting classifications of pathogenicity
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
Health Risk
All Variants (233)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145138923 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Inborn genetic diseases, ASL-related disorder |
| RS149057077 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS150244667 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS1554326267 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS1554328459 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS1584028936 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS201962738 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2484993553 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485007765 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS2485019700 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS28940286 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS28940585 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS373697663 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS752100894 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS754995756 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS756339957 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS756363516 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS757109353 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS759396688 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, ASL-related disorder, Argininosuccinate lyase deficiency |
| RS764356037 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS764546937 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS764602422 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS767271619 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS768722904 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS770167670 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS773071023 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Inborn genetic diseases, Argininosuccinate lyase deficiency |
| RS777288665 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS778254333 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Sarcoma, Argininosuccinate lyase deficiency |
| RS796051931 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS869312985 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS869312990 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS869312991 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS869312994 | Health Risk | Pathogenic/Likely pathogenic | Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |