Entity Details
Primary name |
ASPG_HUMAN |
Entity type |
UniProt |
Source |
Source Link |
Details
Accession | P20933 |
EntryName | ASPG_HUMAN |
FullName | N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase |
TaxID | 9606 |
Evidence | evidence at protein level |
Length | 346 |
SequenceStatus | complete |
DateCreated | 1991-02-01 |
DateModified | 2021-06-02 |
Subcellular Location
Show/Hide Table
Subcellular Location |
Lysosome |
Domains
Show/Hide Table
Domain | Name | Category | Type |
IPR000246 | Peptidase T2, asparaginase 2 | Family | Family |
IPR029055 | Nucleophile aminohydrolases, N-terminal | Family | Homologous superfamily |
Diseases
Show/Hide Table
Disease ID | Source | Name | Description |
208400 | OMIM | Aspartylglucosaminuria (AGU) | An inborn lysosomal storage disease causing excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Clinical features include mild to severe mental retardation manifesting from the age of two, coarse facial features and mild connective tissue abnormalities. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
6 interactions