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The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of t

Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine. Elevates stress-induced ceramide production and apoptosis.

Desmin is a muscle-specific, type III intermediate filament that integrates the sarcolemma, Z disk, and nuclear membrane in sarcomeres and regulates sarcomere architecture. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z line structures. Defects in Desmin are the cause of desmin related cardio skeletal myopathy (CSM) also known as desmin related myopathy (DRM). CSM is characterized by skeletal mus

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+-ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is

Carbonic anhydrase II (CAII) is a single polypeptide chain of molecular weight 29kDa. It is present in the cytosol of most tissues, but highest concentrations are found, like Carbonic Anhydrase I, in erythrocytes. The concentration in erythrocytes is about 20µM. It catalyses the hydration of CO2 and the hydrolysis of esters. Zn2+ ion cofactor is required for enzyme activity. Certain point mutations occur without apparent clinical effect, however, complete absence leads to mild mental reta

Growth factor receptor bound protein 2 (GRB2), also known as Ash protein, is a 24 kDa protein that contains a central Src homology (SH2) domain flanked by two SH3 domains. GRB2 is believed to be a regulatory subunit of signaling molecules whose activity is modulated by receptor binding. GRB2 associates with activated (tyrosine phosphorylated) EGFR and PDGFR via its SH2 domain as well as IRS1, SHC, and LNK through SH2 and SH3 domains. The SH3 domain binds to SOS, a guanine nucleotide exchange