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MAPK12 | mitogen-activated protein kinase 12; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK12 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstre [...] (367 aa) | |||
SNTA1 | syntrophin, alpha 1; Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5- bisphosphate (By similarity) (505 aa) | |||
SGCG | sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein); Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix (291 aa) | |||
ACTA2 | actin, alpha 2, smooth muscle, aorta; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells (377 aa) | |||
SSPN | sarcospan; Component of the dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. Preferentially associates with the sarcoglycan subcomplex of the DGC (243 aa) | |||
TGFA | transforming growth factor, alpha (160 aa) | |||
SCN1A | sodium channel, voltage-gated, type I, alpha subunit; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (2009 aa) | |||
SNTG2 | syntrophin, gamma 2; Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity) (539 aa) | |||
BAI1 | brain-specific angiogenesis inhibitor 1; Phosphatidylserine receptor that enhances the engulfment of apoptotic cells. Likely to be a potent inhibitor of angiogenesis in brain and may play a significant role as a mediator of the p53 signal in suppression of glioblastoma. May function in cell adhesion and signal transduction in the brain (1584 aa) | |||
SCN5A | sodium channel, voltage-gated, type V, alpha subunit (2016 aa) | |||
NOS1 | nitric oxide synthase 1 (neuronal); Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In the brain and peripheral nervous system, NO displays many properties of a neurotransmitter. Probably has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such SRR (1468 aa) | |||
SNTB2 | syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2); Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. May play a role in the regulation of secretory granules via its interaction with PTPRN (540 aa) | |||
SGCD | sarcoglycan, delta (35kDa dystrophin-associated glycoprotein); Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix (290 aa) | |||
GRB2 | growth factor receptor-bound protein 2; Adapter protein that provides a critical link between cell surface growth factor receptors and the Ras signaling pathway (217 aa) | |||
CAV3 | caveolin 3; May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (151 aa) | |||
CALM1 | calmodulin 1 (phosphorylase kinase, delta) (149 aa) | |||
DMD | dystrophin (3685 aa) | |||
UTRN | utrophin; May play a role in anchoring the cytoskeleton to the plasma membrane (By similarity) (3433 aa) | |||
ABCA1 | ATP-binding cassette, sub-family A (ABC1), member 1 (2261 aa) | |||
SGCB | sarcoglycan, beta (43kDa dystrophin-associated glycoprotein); Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix (318 aa) | |||
SGCZ | sarcoglycan, zeta; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. May play a role in the maintenance of striated muscle membrane stability (By similarity) (312 aa) | |||
SNTB1 | syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1); Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (538 aa) | |||
DTNA | dystrobrevin, alpha (743 aa) | |||
DTNB | dystrobrevin, beta (627 aa) | |||
SCN4A | sodium channel, voltage-gated, type IV, alpha subunit; This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. This sodium channel may be present in both denervated and innervated skeletal muscle (1836 aa) | |||
SNTG1 | syntrophin, gamma 1; Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity). May participate in regulating the subcellular location of diacylglycerol kinase-zeta to ensure that diacylglycerol is rapidly inactivated following receptor activation (517 aa) |