DISEASES

Disease-gene associations mined from literature

Literature associating GLUL and retinal detachment

GLUL [ENSP00000307900]

Glutamine synthetase; Glutamine synthetase that catalyzes the ATP-dependent conversion of glutamate and ammonia to glutamine (PubMed:30158707, PubMed:16267323). Its role depends on tissue localization: in the brain, it regulates the levels of toxic ammonia and converts neurotoxic glutamate to harmless glutamine, whereas in the liver, it is one of the enzymes responsible for the removal of ammonia (By similarity). Essential for proliferation of fetal skin fibroblasts . Independently of its glutamine synthetase activity, required for endothelial cell migration during vascular development: acts by regulating membrane localization and activation of the GTPase RHOJ, possibly by promoting RHOJ palmitoylation . May act as a palmitoyltransferase for RHOJ: able to autopalmitoylate and then transfer the palmitoyl group to RHOJ . Plays a role in ribosomal 40S subunit biogenesis . ECO:0000269|PubMed:18662667, ECO:0000269|PubMed:26711351,

Synonyms:  GLUL,  A0A2R8YDT1,  A8YXX4,  P15104,  PIG59 ...

Linkouts:  STRING  Pharos  UniProt  OMIM