Canine Acylglycerol kinase, mitochondrial (AGK) ELISA Kit | AGK elisa kit
Canine Acylglycerol kinase, mitochondrial (AGK) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]
Uniprot Description
AGK: Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively. Does not phosphorylate sphingosine. Overexpression increases the formation and secretion of LPA, resulting in transactivation of EGFR and activation of the downstream MAPK signaling pathway, leading to increased cell growth. Defects in AGK are the cause of mitochondrial DNA depletion syndrome type 10 (MTDPS10). An autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy. Defects in AGK are the cause of cataract, congenital, autosomal recessive type 5 (CATC5). CATC5 consists of an opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Motility/polarity/chemotaxis; Lipid Metabolism - glycerolipid; EC 2.7.1.94; EC 2.7.1.107; Kinase, lipid
Chromosomal Location of Human Ortholog: 7q34
Cellular Component: mitochondrion; intracellular membrane-bound organelle; mitochondrial membrane
Molecular Function: acylglycerol kinase activity; ceramide kinase activity; diacylglycerol kinase activity; ATP binding; NAD+ kinase activity
Biological Process: protein kinase C activation; ceramide biosynthetic process; glycerolipid metabolic process; lipid phosphorylation
Disease: Cataract 38; Sengers Syndrome