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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) | |||
MYH3 | myosin, heavy chain 3, skeletal muscle, embryonic; Muscle contraction (1940 aa) | |||
ANXA1 | annexin A1; Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis. This protein regulates phospholipase A2 activity. It seems to bind from two to four calcium ions with high affinity (346 aa) | |||
HECW2 | HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2; E3 ubiquitin-protein ligase that mediates ubiquitination of TP73. Acts to stabilize TP73 and enhance activation of transcription by TP73 (1572 aa) | |||
DNAJB6 | DnaJ (Hsp40) homolog, subfamily B, member 6 (326 aa) | |||
OPTN | optineurin (577 aa) | |||
TAF1 | TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (1893 aa) | |||
APPL1 | adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1; Required for the regulation of cell proliferation in response to extracellular signals from an early endosomal compartment. Links Rab5 to nuclear signal transduction (709 aa) | |||
COL6A3 | collagen, type VI, alpha 3; Collagen VI acts as a cell-binding protein (3177 aa) | |||
COL12A1 | collagen, type XII, alpha 1; Type XII collagen interacts with type I collagen- containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix (By similarity) (3063 aa) | |||
FLNC | filamin C, gamma; Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross- linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers (2725 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) | |||
TTN | titin (33423 aa) | |||
UBC | ubiquitin C (685 aa) | |||
ANXA2 | annexin A2; Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids (By similarity). It binds two calcium ions with high affinity (By similarity). May be involved in heat-stress response (By similarity) (357 aa) | |||
MYOM1 | myomesin 1; Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent (1685 aa) | |||
MYBPC2 | myosin binding protein C, fast type; Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role (1141 aa) | |||
MYBPC1 | myosin binding protein C, slow type; Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role (1171 aa) | |||
ACTN2 | actinin, alpha 2; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (894 aa) | |||
SNAPIN | SNAP-associated protein; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking. May modulate a step between vesicle priming, fusion [...] (136 aa) | |||
ANKRD1 | ankyrin repeat domain 1 (cardiac muscle); May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells (319 aa) | |||
DES | desmin (470 aa) | |||
CAPN3 | calpain 3, (p94); Calcium-regulated non-lysosomal thiol-protease (821 aa) | |||
NEB | nebulin (8525 aa) | |||
DYSF | dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (2119 aa) | |||
CMYA5 | cardiomyopathy associated 5 (4069 aa) |