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

This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune respons

The REL gene encodes c-Rel, a transcription factor that is a member of the Rel/NFKB family, which also includes RELA (MIM 164014), RELB (604758), NFKB1 (MIM 164011), and NFKB2 (MIM 164012). These proteins are related through a highly conserved N-terminal region termed the 'Rel domain,' which is responsible for DNA binding, dimerization, nuclear localization, and binding to the NFKB inhibitor (MIM 164008) (Belguise and Sonenshein, 2007 [PubMed 18037997]).[supplied by OMIM, May 2008].$n$n $n