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, Hypertrophic, 16 and Myoz2-Related Familial Hypertrophic Cardiomyopathy. GO annotations related to this gene include actin binding and telethonin binding. An important paralog of this gene is MYOZ3.
UniProtKB/Swiss-Prot 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.