Human skeletal muscle: immunohistochemical staining for Myotilin. Note sarcoplasmic staining of normal muscle fibers (A) and presence of protein aggregates (B). Myotilin: clone RSO34

Myotilin

myotilin

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.

  • MYOTILIN
    1ml NCL-MYOTILIN
    RSO34
    Lyophilised Concentrate
    F; P (HIER)

Product Specifications

Product Specifications

MYOTILIN
Muscle Pathology
RSO34
Lyophilised Concentrate
No
F; P (HIER)
Mono
Mouse
Research Use Only
1ml

Documents

Documents

MYOTILIN

Resources

Resources

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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