Literature summary for 2.7.1.94 extracted from

Siriwardena, K.; Mackay, N.; Levandovskiy, V.; Blaser, S.; Raiman, J.; Kantor, P.F.; Ackerley, C.; Robinson, B.H.; Schulze, A.; Cameron, J.M.
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations (2013), Mol. Genet. Metab., 108, 40-50.

Search for more literature for 2.7.1.94

Application

Application	Comment	Organism
medicine	homozygous mutation c.3G>A, p.M1I in the gene encoding acylglycerol kinase has been identified in two brothers who presented with vascular strokes, lactic acidosis, cardiomyopathy and cataracts, abnormal muscle cell histopathology and mitochondrial function. One proband had very abnormal mitochondria with citrate synthase crystals visible in electron micrographs, associated with markedly high citrate synthase activity. Homozygous c.979A>T, p.K327* mutation has been identified in a family with four affected members, of which two have been examined. They presented with similar clinical symptoms, but no strokes. Postmortem heart and skeletal muscle tissues showed low complex I, III and IV activities in the heart, but normal in the muscle. Skin fibroblasts showed elevated lactate/pyruvate ratios and low complex I+III activity	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
-	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	homozygous mutation c.3G>A, p.M1I in the gene encoding acylglycerol kinase has been identified in two brothers who presented with vascular strokes, lactic acidosis, cardiomyopathy and cataracts, abnormal muscle cell histopathology and mitochondrial function. One proband had very abnormal mitochondria with citrate synthase crystals visible in electron micrographs, associated with markedly high citrate synthase activity. Homozygous c.979A>T, p.K327* mutation has been identified in a family with four affected members, of which two have been examined. They presented with similar clinical symptoms, but no strokes. Postmortem heart and skeletal muscle tissues showed low complex I, III and IV activities in the heart, but normal in the muscle. Skin fibroblasts showed elevated lactate/pyruvate ratios and low complex I+III activity	Homo sapiens

Localization

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)