Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期:
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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.
基因功能參考文獻(xiàn):
may play a modifying role in hypertrophic cardiomyopathy by affecting the penetrance or degree of performance of the MYH7 gene PMID: 28296734
The cardiac phenotype in hypertrophic cardiomyopathy caused by MYOZ2 mutations might be independent of calcineurin activity in the heart. PMID: 22987565
Two missense mutations, S48P substitution and I246M affecting highly conserved amino acids were linked to hereditary Hypertrophic cardiomyopathy characterized by early onset of symptoms, pronounced cardiac hypertrophy, and cardiac arrhythmias. PMID: 17347475
Mutations in MYOZ1 and MYOZ2 are at least very rare events as an underlying disease mechanism for idiopathic or familial DCM PMID: 17434779
Observational study of genotype prevalence. (HuGE Navigator) PMID: 17347475
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相關(guān)疾?。?/div>
Cardiomyopathy, familial hypertrophic 16 (CMH16)
亞細(xì)胞定位:
Cytoplasm, myofibril, sarcomere, Z line.
蛋白家族:
Myozenin family
組織特異性:
Expressed specifically in heart and skeletal muscle.