GLUL
GLUL
An intronless gene on chromosome 1q31 that encodes a glutamine synthetase, which catalyses the synthesis of glutamine from glutamate and ammonia. Glutamine is a key source of energy and is involved in cell proliferation, inhibition of apoptosis, and cell signalling. GLUL is expressed during early foetal stages, and plays an important role in controlling pH by removing ammonia from circulation.Molecular pathology
GLUL mutations are associated with congenital glutamine deficiency.