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The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified.
Gene Name: | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
Family/Subfamily: | Protein Kinase , TRIO/TRAD |
Synonyms: | OBSCN, ARHGEF30, KIAA1639, KIAA1556, Obscurin, Obscurin-MLCK, Obscurin-RhoGEF, UNC89 |
Target Sequences: | AB046859 BAB13465.2 Q5VST9 |
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