GOT2

Function

Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). As a member of the malate-aspartate shuttle, it has a key role in the intracellular NAD(H) redox balance. Is important for metabolite exchange between mitochondria and cytosol, and for amino acid metabolism. Facilitates cellular uptake of long-chain free fatty acids.

Involvement in disease

Developmental and epileptic encephalopathy 82

DEE82

A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE82 is an autosomal recessive metabolic encephalopathy characterized by epilepsy from the first year of life, global developmental delay, hypotonia and feeding difficulties apparent soon after birth, and intellectual and motor disabilities. Other features include poor overall growth, progressive microcephaly and biochemical abnormalities, including increased serum lactate and ammonia.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence similarities

Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.

Cellular localization

• Mitochondrion matrix
• Cell membrane
• Exposure to alcohol promotes translocation to the cell membrane.

Alternative names

• mAspAT
• Fatty acid-binding protein
• Glutamate oxaloacetate transaminase 2
• Kynurenine aminotransferase 4
• Kynurenine aminotransferase IV
• Kynurenine--oxoglutarate transaminase 4
• Kynurenine--oxoglutarate transaminase IV
• Plasma membrane-associated fatty acid-binding protein
• Transaminase A
• FABP-1
• FABPpm
• GOT2
• KYAT4

Database links

• entrezGene:2806
• omim:138150
• swissprot:P00505

Target type

Proteins

Molecular weight

47518Da