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This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcr
Gab1 is a 115 kDa multiple docking protein that plays an essential role in cellular growth, transformation and apoptosis. Gab1 can be phosphorylated by multiple receptor tyrosine kinase (RTKs), including: insulin receptor (IR), platelet derived growth factor receptor beta] (PDGFRbeta]), hepatocyte growth factor/scatter factor receptor (HGFR/SFR or c Met), and epidermal growth factor receptor (EGF), as well as in response to cell cell adhesion. Gab1 is tyrosine phosphorylated on at least 16 si
PMP2 is a small basic protein, belonging to the fatty-acid binding protein (FABP) family and is one of the major proteins of peripheral myelin. It appears to be involved in the transport of fatty acids or the metabolism of myelin lipids, and has been shown to have lipid-binding activity. PMP2 protein may have an important role in the organization of compact myelin.
This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the pentapeptide opioids Met-enkephalin and Leu-enkephalin, which are stored in synaptic vesicles, then released into the synapse where they bind to mu- and delta-opioid receptors to modulate the perception of pain. Other non-opioid cleavage products may function in distinct biological activities. [provided by RefSeq, Jul 2015]
Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations
ADAR1 converts adenosine to inosine in dsRNA, which destabilizes the dsRNA helix. This activity is important for various functions like site-specific RNA editing of transcripts of the glutamate receptors and modifying viral RNA genomes (which may be responsible for hypermutation of certain negative-stranded viruses, e.g., measles virus). ADAR1 also binds to short interfering RNAs (siRNA) without editing them and suppresses siRNA-mediated RNA interference. This protein is ubiquitously expresse