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Product Name Myozenin 2 Chinese Name 肌肉特异性蛋白MYOZ2抗体 Alias C4orf5; Calcineurin binding protein calsarcin 1; Calsarcin 1; Calsarcin-1; Calsarcin1; CMH16; CS 1; CS1; FATZ related protein 2; FATZ-related protein 2; Muscle specific protein; MYOZ 2; MYOZ2; MYOZ2_HUMAN; Myozenin-2; Myozenin2. Research Area Cell biology Signal transduction Cytoskeleton Immunogen Species Rabbit Clonality Polyclonal React Species Mouse, (predicted: Human, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 30kDa Cellular localization cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human Myozenin 2: 1-100/264 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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]
Function:
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.
Subcellular Location:
Cytoplasm > myofibril > sarcomere > Z line. Colocalizes with ACTN1 and PPP3CA at the Z-line of heart and skeletal muscle.
Tissue Specificity:
Expressed specifically in heart and skeletal muscle.
DISEASE:
Defects in MYOZ2 are the cause of familial hypertrophic cardiomyopathy type 16 (CMH16) [MIM:613838]. CMH16 is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Similarity:
Belongs to the myozenin family.
SWISS:
Q9NPC6
Gene ID:
51778
Database links:Entrez Gene: 51778 Human
Entrez Gene: 59006 Mouse
Entrez Gene: 100526817 Sheep
Omim: 605602 Human
SwissProt: Q9NPC6 Human
SwissProt: Q9JJW5 Mouse
Unigene: 732122 Human
Unigene: 141157 Mouse
Unigene: 12931 Rat
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