The obscn gene encodes a giant obscurin protein that functions as a cytoskeletal adapter and serine/threonine-protein kinase. this protein localizes to the sarcomere in skeletal and cardiac muscle, spe...[+]

The obscn gene encodes a giant obscurin protein that functions as a cytoskeletal adapter and serine/threonine-protein kinase. this protein localizes to the sarcomere in skeletal and cardiac muscle, specifically at the m-line and z-disc, and is also found within myonuclei. it plays a role in the organization and stability of the contractile apparatus, myofibrillogenesis, and sarcoplasmic reticulum development. obscurin interacts with proteins such as titin and small ankyrin 1 to anchor the sarcoplasmic reticulum around the myofibril and is involved in intracellular signaling pathways within muscle cells. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD