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Myotilin Muscle Disease Antibodies

Myotilin

Human skeletal muscle: immunohistochemical staining for myotilin using NCL-MYOTILIN antibody.  Note sarcoplasmic staining of normal muscle fibers (A) and presence of protein aggregates in an individual with myofibrillar myopathy (B). Frozen sections.
Human skeletal muscle: immunohistochemical staining for myotilin using NCL-MYOTILIN antibody. Note sarcoplasmic staining of normal muscle fibers (A) and presence of protein aggregates in an individual with myofibrillar myopathy (B). Frozen sections.

Antigen Background

The myotilin gene on chromosome 5q31 encodes a 498 amino acid polypeptide with a molecular weight of 57kD. Myotilin is a structural protein of sarcomeric Z discs and sarcolemma in human skeletal and cardiac muscle. It is homologous to palladin and titin in the two C-terminal lg-domains and also to palladin in its unique serine-rich N-terminal region. Myotilin interacts with alpha-actinin, actin and gamma-filamin. Mutations in the myotilin gene are associated with limb-girdle muscular dystrophy 1 A (LGMD1A) and one form of Myofibrillar Myopathy. It is highly conserved between human and mouse with its expression being more widespread in the embryo than in the adult. Expression of myotilin has been reported in adult skeletal and cardiac muscle with variable expression reported in the peripheral nervous system, lung, liver and kidney. NCL-MYOTILIN will be of use in studies to determine the expression of myotilin in normal and pathological tissues.


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Code Name Configuration Use Datasheet MSDS Qty
MYOTILIN 1ml NCL-MYOTILIN Lyophilised Concentrated Monoclonal Antibody F, P(HIER) Info MSDS
MYOTILIN-U 1ml NCL-MYOTILIN US IVD Lyophilised Concentrated Monoclonal Antibody F, P(HIER) Info MSDS