OnlineIMD
GLUL-related disease
Type
Disease
External link(s)
IEMbase
Gene
GLUL
/ Glutamate-Ammonia Ligase
1q25.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Glutamine synthetase
Pathway
Glutamate/glutamine and aspartate/asparagine metabolism
Disease group(s)
1.9 Disorders of glutamate/glutamine and aspartate/asparagine metabolism
Child entries
Glutamine synthetase deficiency
Glutamine synthetase degron dysregulation syndrome