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This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting

ETV6 is the prototype member of a family of genes identified on the basis of homology to the v-Ets oncogene isolated from the E26 erythroblastosis virus. Members of the Ets gene family exhibit varied patterns of tissue expression and share a highly conserved carboxy terminal domain containing a sequence related to the SV40 large T antigen nuclear localization signal sequence. This conserved domain is essential for Ets-1 binding to DNA and is likely to be responsible for the DNA binding activi

This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]

Interleukin 32 (IL-32) was initially identified as a transcript (NK4) that is selectively expressed in lymphocytes and NK cells and whose expression is increased following activation by IL-2. It was later re-isolated from an IL-18-treated lung carcinoma cell line and re-named IL-32. IL-32 is unusual in that it does not share sequence homology with known cytokine families and is highly expressed in immune tissues, existing in at least four differentially spliced isoforms. As treatment of hum

Basement membranes are the earliest extracellular matrices produced during embryogenesis. They are synthesized and incorporated into the supramolecular architecture of several components, including laminins, Collagen IV, Nidogen and proteoglycans. Nidogen/Entactin, a sulfated glycoprotein, acts as a link between the extracellular matrix molecules Laminin 1 and Collagen Type IV, and thereby participates in the assembly of basement membranes. Nidogen is a highly conserved member of the Nidoge

Protein S (PROS) is a vitamin K-dependent plasma protein that inhibits blood clotting by serving as a cofactor for activated protein C (APC) and facilitates clearance of early apoptotic cells. In the plasma, circulating Protein S becomes inactive upon complexing with C4b-binding protein (C4BP); 60-70% of Protein S circulates in complex with C4BP. Calcium-dependent association of C4BP-Protein S with apoptotic cells influences the regulation of complement activation. Protein S has APC-independen