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Literature summary for 2.6.1.19 extracted from

  • Besse, A.; Wu, P.; Bruni, F.; Donti, T.; Graham, B.H.; Craigen, W.J.; McFarland, R.; Moretti, P.; Lalani, S.; Scott, K.L.; Taylor, R.W.; Bonnen, P.E.
    The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism (2015), Cell Metab., 21, 417-427.
    View publication on PubMedView publication on EuropePMC

Application

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

Protein Variants Comment Organism
L211F homozygous missense mutation idientified in in a family with encephalomyopathic mitochondrial DNA depletion syndrome Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
Homo sapiens 5739
-

Organism

Organism UniProt Comment Textmining
Homo sapiens P80404
-
-

Synonyms

Synonyms Comment Organism
ABAT
-
Homo sapiens

General Information

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