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Rabbit Anti-MYL2/FITC Conjugated antibody
background:
Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
Function:
Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion.
Subunit:
Myosin is a hexamer of 2 heavy chains and 4 light chains.
Tissue Specificity:
Expressed in fetal and adult skeletal muscle.
Post-translational modifications:
N-terminus is methylated by METTL11A/NTM1.
DISEASE:
Defects in MYL2 are the cause of cardiomyopathy familial hypertrophic type 10 (CMH10) [MIM:608758]. Familial hypertrophic cardiomyopathy 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.
Defects in MYL2 are the cause of cardiomyopathy familial hypertrophic with mid-left ventricular chamber type 2 (MVC2) [MIM:608758]. MVC2 is a very rare variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening.
Similarity:
Contains 3 EF-hand domains.
Database links:
Entrez Gene: 505519 Cow
Entrez Gene: 403614 Dog
Entrez Gene: 4633 Human
Entrez Gene: 17906 Mouse
Entrez Gene: 363925 Rat
Omim: 160781 Human
SwissProt: Q3SZE5 Cow
SwissProt: P10916 Human
SwissProt: P51667 Mouse
SwissProt: P08733 Rat
Unigene: 48942 Cow
Unigene: 75535 Human
Unigene: 1529 Mouse
Unigene: 37176 Rat
Unigene: 6534 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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