Non-regulatory myosin light chain required for proper formation and/or maintenance of myofibers, and thus appropriate muscle function.
Myocilin, also known as Trabecular meshwork-induced glucocorticoid response protein, MYOC and GLC1A, is a protein which contains oneolfactomedin-like domain. Myocilin / MYOC may participate in the obstruction of fluid outflow in the trabecular meshwork. Myocilin / MYOC is expressed in large amounts in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart and other tissues. Myocilin / MYOC is expressed predominantly in the retina. In normal eyes, it is found in the inner uveal meshwork region and the anterior portion of the meshwork. In contrast, in many glaucomatous eyes, it is found in more regions of the meshwork and appeared more intensively than in normal eyes, regardless of the type or clinical severity of glaucoma. Defects in Myocilin / MYOC may contribute to primary congenital glaucoma type 3A (GLC3A). Defects in MYOC may also contribute to this phenotype via digenic inheritance. GLC3A is an autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early choldhood, large ocular globes (buphthalmos) and corneal edema.
Myozenins may serve as intracellular binding proteins involved in linking Z-disk proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.
Myoglobin is a 17KDa cytoplasmic oxygen-binding protein encoded by the MB gene and expressed in myocytes of the heart and skeletal muscle. Its name derives from its structural and functional similarity to hemoglobin, the oxygen binding protein found in red blood cells. Functions of myoglobin include oxygen storage and transport, as well as scavenging of NO and reactive oxygen species. Myoglobin also serves as a sensitive marker for muscle injury resulting from cardiac infarction. Myoglobin was the first protein to have its three-dimensional structure determined by X-ray crystallography.
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