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MAGOH, the human homolog of Drosophila mago nashi, is required for embryo development. MAGOH is ubiquitously expressed in adult tissues. It has an unusual structure consiting of an extremely flat, six-stranded anti-parallel β sheet packed next to two helices. MAGOH interacts with the Y14 protein to form a complex that plays a crucial role in postsplicing processing (including nuclear export and cytoplasmic localization of the mRNA) and in the nonsense-mediated mRNA decay (NMD) surveillance p

High density lipoproteins (HDLs) play a critical role in cholesterol metabolism and their plasma concentrations are inversely correlated with risk for atherosclerosis. SR-BI and SR-BII (previously known as SR-BI.2) are the alternatively spliced products of a single gene. SR-BII and SR-BI are identical except for the encoded c-terminal cytoplasmic domain. Both SR-BI and SR-BII bind HDL and mediates selective uptake of HDL cholesteryl ester, but with SR-BII having an approximately 4-fold low

This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq]

This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript

Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydrox