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.
Biological Context
Subcellular Location: Mitochondrion matrix; Cell membrane
Disease Association: 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. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Aspartate aminotransferase, mitochondrial (GOT2) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 30-430aa, with N-terminal 10xHis-tagged and C-terminal Myc-tagged tag, molecular weight 52.2kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications. Explore more Enzyme proteins →
