DISEASES

Disease-gene associations mined from literature

Literature associating GOT1 and esophageal varix

GOT1 [ENSP00000359539]

Aspartate aminotransferase, cytoplasmic; Biosynthesis of L-glutamate from L-aspartate or L-cysteine. Important regulator of levels of glutamate, the major excitatory neurotransmitter of the vertebrate central nervous system. Acts as a scavenger of glutamate in brain neuroprotection. The aspartate aminotransferase activity is involved in hepatic glucose synthesis during development and in adipocyte glyceroneogenesis. Using L-cysteine as substrate, regulates levels of mercaptopyruvate, an important source of hydrogen sulfide. Mercaptopyruvate is converted into H(2)S via the action of 3-mercaptopyruvate sulfurtransferase (3MST). Hydrogen sulfide is an important synaptic modulator and neuroprotectant in the brain. ; Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.

Synonyms:  GOT1,  GOT1p,  hGOT1,  A0A140VK69,  P17174 ...

Linkouts:  STRING  Pharos  UniProt  OMIM