Function
May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.
Biological Context
Subcellular Location: Cytoplasm; Synapse; Cell membrane
Tissue Specificity: Highly expressed in brain, skeletal and cardiac muscles, and expressed at lower levels in lung, liver and pancreas. Isoform 2 is not expressed in cardiac muscle. Isoform 7 and isoform 8 are only expressed in muscle
Disease Association: Left ventricular non-compaction 1 (LVNC1) : A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC1 is an autosomal dominant condition. [The disease is caused by variants affecting the gene represented in this entry] | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 (MMCKR2) : An autosomal dominant muscular disorder characterized by myalgia, muscle cramps and exercise intolerance with variable ages of onset, and persistent elevations of serum creatine kinase levels. Muscle biopsy shows mixed myopathic and dystrophic findings, characterized by fiber size variability, internalized nuclei, and slightly increased extracellular connective tissue and inflammation. [The disease may be caused by variants affecting the gene represented in this entry]
Product Specifications
Mouse anti-Human/Mouse/Rat sapiens (Human) DTNA Monoclonal Antibody is a recombinant protein. Suitable for ELISA and Western Blot applications. Explore more Antibody products →
