Application | Comment | Organism |
---|---|---|
medicine | in a family with encephalomyopathic mitochondrial DNA depletion syndrome, the homozygous missense mutation L211F in ABAT results in elevated GABA in subjects' brains as well as decreased mtDNA levels in subjects' fibroblasts | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
L211F | homozygous missense mutation idientified in in a family with encephalomyopathic mitochondrial DNA depletion syndrome | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P80404 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
ABAT | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
physiological function | mutations in the enzyme cause an autosomal recessive neurometabolic disorder and mitochondrial DNA depletion syndrome (MDS). ABAT functions in the mitochondrial nucleoside salvage pathway to facilitate conversion of dNDPs to dNTPs. Inhibition of ABAT by Vigabatrin causes depletion of mtDNA in photoreceptor cells that is prevented through addition of dNTPs in cell culture media | Homo sapiens |