ADSL Chromosome 22
Adenylosuccinate lyase
Upload your DNA to see your personal genotypes for variants in ADSL.
What This Gene Does
The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
Purinosome
Locus Type
gene with protein product
Location
22q13.1
Ensembl
ENSG00000239900
Associated Conditions (9)
Adenylosuccinate lyase deficiency
Inborn genetic diseases
ADSL-related disorder
Gastric cancer
Severe global developmental delay
Difficulty standing
Inability to walk
Generalized myoclonic seizure
Progressive neurologic deterioration
Key Variants
RS1057521071
Conflicting classifications of pathogenicity
Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
Health Risk
RS1209918065
Conflicting classifications of pathogenicity
Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
Health Risk
RS1257907226
Conflicting classifications of pathogenicity
Adenylosuccinate lyase deficiency, Inborn genetic diseases, Adenylosuccinate lyase deficiency
Health Risk
RS138203195
Conflicting classifications of pathogenicity
Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
Health Risk
RS1385675650
Conflicting classifications of pathogenicity
Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
Health Risk
RS143083947
Conflicting classifications of pathogenicity
Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
Health Risk
RS143275316
Conflicting classifications of pathogenicity
Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
Health Risk
RS143977255
Conflicting classifications of pathogenicity
Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
Health Risk
RS1465152683
Conflicting classifications of pathogenicity
Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
Health Risk
RS148411623
Conflicting classifications of pathogenicity
Adenylosuccinate lyase deficiency, ADSL-related disorder, Adenylosuccinate lyase deficiency
Health Risk
RS1555903969
Conflicting classifications of pathogenicity
Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
Health Risk
RS1601551862
Conflicting classifications of pathogenicity
Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
Health Risk
All Variants (107)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555908924 | Health Risk | Likely pathogenic | — |
| RS1601596522 | Health Risk | Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS2146634231 | Health Risk | Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS2518100114 | Health Risk | Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS370851726 | Health Risk | Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS554254383 | Health Risk | Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS563054392 | Health Risk | Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS572438339 | Health Risk | Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS761551284 | Health Risk | Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS775671027 | Health Risk | Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS776496275 | Health Risk | Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS779612414 | Health Risk | Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS796052244 | Health Risk | Likely pathogenic | — |
| RS1036185928 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS1193437955 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS119450940 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS119450941 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Inborn genetic diseases, Adenylosuccinate lyase deficiency |
| RS119450942 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS119450945 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS1268082439 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS1410270058 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS1569096551 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS1569099793 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS1601552154 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS2044777708 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS2044792794 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS2044916556 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS2146622848 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS2146658733 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS2146667709 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS2518096229 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS2518130804 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS374259530 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Severe global developmental delay, Difficulty standing |
| RS546878201 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS746501563 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS747964752 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS761493155 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS774435749 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, ADSL-related disorder, Adenylosuccinate lyase deficiency |
| RS774729848 | Health Risk | Pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS796052246 | Health Risk | Pathogenic | — |
| RS119450943 | Health Risk | Pathogenic/Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS119450944 | Health Risk | Pathogenic/Likely pathogenic | Adenylosuccinate lyase deficiency, ADSL-related disorder, Adenylosuccinate lyase deficiency |
| RS1272053459 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Adenylosuccinate lyase deficiency, Inborn genetic diseases |
| RS1601586359 | Health Risk | Pathogenic/Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS202064195 | Health Risk | Pathogenic/Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS2044946255 | Health Risk | Pathogenic/Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS28941471 | Health Risk | Pathogenic/Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS372895468 | Health Risk | Pathogenic/Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS373458753 | Health Risk | Pathogenic/Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS749817666 | Health Risk | Pathogenic/Likely pathogenic | Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |