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A gene on chromosome 20q13.1 encodes Eya2 (eyes absent). EYA2 is one of four members of the eyes absent family. A 271 amino acid domain at the carboxy-terminal is highly conserved amongst the members of the eyes absent family, while the PST (proline-serive-threonin)-rich amino-terminal is highly divergent. EYA2 is expressed relatively late in development in the cytoplasm of extensor tendons and ligaments of the phalangeal elements of the limb, cranial placodes, branchial arches, central nervou

The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoin

Thrombomodulin, TM is cell surface glycoprotein; plays an important role in the protein C anticoagulant pathway. It located in a vein, artery and capillary endothelial cells on the surface of plasma membrane protein. It is generally believed: TM vascular endothelial injury is an important parameter is the thrombin receptor, known in a variety of normal human tissues, can also be expressed in many tumors, TM may be similar to the E-cadherin,and is a lectin Like activity of a new class of member

The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and o

May play a functional role in the immune system, as well as in the nervous system. Induces B-cells to aggregate and improves their viability in vitro.

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008]