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Browse result for Canavan disease
※ introduction A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13.
Reference
DiseaseOntology: Canavan disease
Reference
DiseaseOntology: Canavan disease
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD05153 | P45381 | 443 | ASPA | Aspartoacylase | Homo sapiens |
