ASPA Chromosome 17
Aspartoacylase
Upload your DNA to see your personal genotypes for variants in ASPA.
What This Gene Does
This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (10)
Spongy degeneration of central nervous system
Canavan Disease
Familial Form
Intellectual disability
Inborn genetic diseases
Fraser syndrome 3
ASPA-related disorder
Autism
Mild Canavan disease
Abnormality of metabolism/homeostasis
Key Variants
RS1057516995
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Canavan Disease, Familial Form
Health Risk
RS144321760
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Intellectual disability, Canavan Disease
Health Risk
RS1597438977
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
Health Risk
RS199565861
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
Health Risk
RS2073520755
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
Health Risk
RS2073632657
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
Health Risk
RS2150764080
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
Health Risk
RS377217076
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
Health Risk
RS528179434
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
Health Risk
RS574328488
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Inborn genetic diseases, Spongy degeneration of central nervous system
Health Risk
RS759106494
Conflicting classifications of pathogenicity
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
Health Risk
RS773849106
Conflicting classifications of pathogenicity
Fraser syndrome 3, Spongy degeneration of central nervous system, Inborn genetic diseases
Health Risk
All Variants (139)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS753871454 | Health Risk | Pathogenic | Spongy degeneration of central nervous system, Canavan Disease, Familial Form |
| RS756198538 | Health Risk | Pathogenic | Spongy degeneration of central nervous system, Canavan Disease, Familial Form |
| RS767666474 | Health Risk | Pathogenic | Spongy degeneration of central nervous system, Canavan Disease, Familial Form |
| RS786204572 | Health Risk | Pathogenic | Spongy degeneration of central nervous system, Canavan Disease, Familial Form |
| RS786204620 | Health Risk | Pathogenic | Spongy degeneration of central nervous system, Inborn genetic diseases, Spongy degeneration of central nervous system |
| RS104894548 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Canavan Disease, Familial Form |
| RS104894552 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS104894553 | Health Risk | Pathogenic/Likely pathogenic | Mild Canavan disease, Spongy degeneration of central nervous system, Inborn genetic diseases |
| RS1057516879 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS1057516962 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS1057521115 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Canavan Disease, Familial Form |
| RS1289890879 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Canavan Disease, Familial Form |
| RS1331100491 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Canavan Disease, Familial Form |
| RS1446467099 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Canavan Disease, Familial Form |
| RS1482032907 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS1597422213 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system, Canavan Disease |
| RS1597422432 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS1597439149 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS2073669074 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Abnormality of metabolism/homeostasis, Spongy degeneration of central nervous system |
| RS2073877472 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS2150741763 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS2150741844 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS2150748728 | Health Risk | Pathogenic/Likely pathogenic | Mild Canavan disease, Spongy degeneration of central nervous system, Mild Canavan disease |
| RS2543606405 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS2543619356 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS2543624410 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS2543624449 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS2543636344 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS2543658211 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS28940279 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Canavan Disease, Familial Form |
| RS63751297 | Health Risk | Pathogenic/Likely pathogenic | Canavan Disease, Familial Form, Spongy degeneration of central nervous system |
| RS750505963 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Canavan Disease, Familial Form |
| RS761064915 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Canavan Disease, Familial Form |
| RS766720790 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Canavan Disease, Familial Form |
| RS769653717 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, ASPA-related disorder, Spongy degeneration of central nervous system |
| RS774323189 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Canavan Disease, Familial Form |
| RS779440632 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS780936696 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Canavan Disease, Familial Form |
| RS937670540 | Health Risk | Pathogenic/Likely pathogenic | Spongy degeneration of central nervous system, Inborn genetic diseases, Spongy degeneration of central nervous system |