EC Number   |
Protein Variants |
Reference |
|---|
   2.7.1.94 | G126E |
inactive |
761886 |
| 2.7.1.94 | G126E |
site-directed mutagenesis, mutation of the conserved glycine residue of the glycine-rich loop of the ATP binding site, catalytically inactive mutant |
662505 |
| 2.7.1.94 | more |
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 |
723199 |
| 2.7.1.94 | more |
identification of a novel autosomal recessive cataract locus on 7q33-q36.1 in a multiplex consanguineous family with isolated congenital cataractl. Mutation is a splice-site mutation in AGK, encoding acylglycerol kinase, which leads to aberrant splicing and predicted premature truncation |
722380 |
| 2.7.1.94 | more |
inactivation of all genes by siRNA transfection, overview |
662505 |
| 2.7.1.94 | more |
overexpression of AGK sustains constitutive JAK2/STAT3 activation, consequently promoting the cancer stem cell population and augmenting the tumorigenicity of esophageal squamous cell carcinoma cells both in vivo and in vitro. Enzyme knockout by expression of specific RNAi in esophageal squamous cell cancer cells |
738754 |
| 2.7.1.94 | more |
TSCCa cells are transfected with lentiviral vectors encoding short hairpin (sh)RNA targeting human AGK for enzyme AGK knockdown. Overexpression of AGK results in upregulation of the protein and mRNA expression levels of cyclin D1, and increases the expression levels of p-Rb, while p21 expression levels are downregulated |
739084 |
