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Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate(AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, Gria1-4. The subunit encoded by this gene (Gria2) is subject to RNA editing(CAG

The engrailed-1 gene, EN1, a murine homolog of the Drosophila homeobox gene engrailed (EN), is required for midbrain and cerebellum development and dorsal/ventral patterning of the limbs as well as apical ectodermal ridge formation. In Drosophila, the EN gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Human EN-1 and EN-2 are homeodomain-containing proteins and have been implicated in the control of pattern fo

NCF1, along with NCF2 and a membrane bound cytochrome b558, is required for activation of the latent NADPH oxidase necessary for superoxide production. Defects in NCF1 are the cause of autosomal cytochrome-b-positive chronic granulomatous disease type 1 (CGD).

The Hox proteins play a role in development and cellular differentiation by regulating downstream target genes. Specifically, the Hox proteins direct DNA-protein and protein-protein interactions that assist in determining the morphologic features associated with the anterior-posterior body axis. HoxA13 and HoxD13 also bind to other BMP and TGF-beta/Activin-regulated Smad proteins including Smad1 and Smad2, but not Smad4. In humans and mice, loss of HOXA13 function causes defects in the gr

The protein encoded by this gene is a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The external domain mediates cell attachment to the extracellular matrix molecule vitronectin, while its intracellular domain interacts with the dynein light chain Tctex-1/DYNLT1. The gene is specific to the primate lineage, and serves as a cellular receptor for poliovirus in the first step of poliovirus replication. Multiple transcript variants encoding different isoforms have been fo

Adipose triglyceride lipase (ATGL) may function as a lipase and play a role in the adaptive response to a low energy state, such as fasting, by providing fatty acids to other tissues for oxidation. In addition, decreased expression of desnutrin in obesity models suggests its possible contribution to the pathophysiology of obesity. ATGL catalyzes the initial step in triglyceride hydrolysis in mammalian adipose tissue. ATGL contains a patatin domain common to plant acyl hydrolases. ATGL is highl