ADPRS Chromosome 1
ADP-ribosylserine hydrolase
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What This Gene Does
This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009]
Associated Conditions (6)
Neurodegeneration
childhood-onset
stress-induced
with variable ataxia and seizures
ADPRHL2-related disorder
ADPRS-related disorder
Key Variants
RS531916765
Conflicting classifications of pathogenicity
Neurodegeneration, childhood-onset, stress-induced
Health Risk
RS1557733367
Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced
Health Risk
RS1570008399
Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced
Health Risk
RS1570012058
Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced
Health Risk
RS1570013257
Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced
Health Risk
RS200626873
Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced
Health Risk
RS2124055267
Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced
Health Risk
RS2524677445
Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced
Health Risk
RS2524684835
Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced
Health Risk
RS368433666
Likely pathogenic
Neurodegeneration, childhood-onset, stress-induced
Health Risk
RS1557732234
Pathogenic
Neurodegeneration, childhood-onset, stress-induced
Health Risk
RS1557733597
Pathogenic
Neurodegeneration, childhood-onset, stress-induced
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS531916765 | Health Risk | Conflicting classifications of pathogenicity | Neurodegeneration, childhood-onset, stress-induced |
| RS1557733367 | Health Risk | Likely pathogenic | Neurodegeneration, childhood-onset, stress-induced |
| RS1570008399 | Health Risk | Likely pathogenic | Neurodegeneration, childhood-onset, stress-induced |
| RS1570012058 | Health Risk | Likely pathogenic | Neurodegeneration, childhood-onset, stress-induced |
| RS1570013257 | Health Risk | Likely pathogenic | Neurodegeneration, childhood-onset, stress-induced |
| RS200626873 | Health Risk | Likely pathogenic | Neurodegeneration, childhood-onset, stress-induced |
| RS2124055267 | Health Risk | Likely pathogenic | Neurodegeneration, childhood-onset, stress-induced |
| RS2524677445 | Health Risk | Likely pathogenic | Neurodegeneration, childhood-onset, stress-induced |
| RS2524684835 | Health Risk | Likely pathogenic | Neurodegeneration, childhood-onset, stress-induced |
| RS368433666 | Health Risk | Likely pathogenic | Neurodegeneration, childhood-onset, stress-induced |
| RS1557732234 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, stress-induced |
| RS1557733597 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, stress-induced |
| RS1557734377 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, stress-induced |
| RS1643486648 | Health Risk | Pathogenic | — |
| RS2524677372 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, stress-induced |
| RS768832709 | Health Risk | Pathogenic | ADPRHL2-related disorder, ADPRHL2-related disorder |
| RS1557733311 | Health Risk | Pathogenic/Likely pathogenic | Neurodegeneration, childhood-onset, stress-induced |
| RS201735454 | Health Risk | Pathogenic/Likely pathogenic | Neurodegeneration, childhood-onset, stress-induced |