Disease-gene associations mined from literature

Literature associating GLS and autosomal recessive disease

GLS [ENSP00000317379]

Glutaminase kidney isoform, mitochondrial; Catalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. Plays a role in maintaining acid-base homeostasis. Regulates the levels of the neurotransmitter glutamate in the brain. Isoform 2 lacks catalytic activity; Ankyrin repeat domain containing

Synonyms:  GLS,  B3KM58,  B7Z509,  B8ZZA8,  B8ZZC5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM