Aliases for MYOZ2 Gene
External Ids for MYOZ2 Gene
Previous HGNC Symbols for MYOZ2 Gene
Previous GeneCards Identifiers for MYOZ2 Gene
The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]
GeneCards Summary for MYOZ2 Gene
MYOZ2 (Myozenin 2) is a Protein Coding gene. Diseases associated with MYOZ2 include Cardiomyopathy, Familial Hypertrophic, 16 and Hypertrophic Cardiomyopathy. Gene Ontology (GO) annotations related to this gene include actin binding and telethonin binding. An important paralog of this gene is MYOZ1.
UniProtKB/Swiss-Prot Summary for MYOZ2 Gene
Myozenins may serve as intracellular binding proteins involved in linking Z line 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.