Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 04-03-2009 |
Symbol | AGU |
Location | 4q34.3 |
Name | aspartylglucosaminuria |
Corresponding gene | AGA |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/lysosomal |
Type | disease |
Gene product |
Name | aspartyl-N-acetylglucosaminidase (AGA) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
|  
| L15R amino acid substitution
| |
Remark(s) |