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nebulin


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A giant protein (6669 aa) found in the N line of the sarcomere of striated muscle, accounting for 3–4% of the total myofibrillar protein. It has multiple (>200) actin-binding repeats and may determine the length of thin filaments. Multiple tissue- and developmental-stage specific isoforms are found. Mutations are associated with nemaline myopathy 2. Nebulin-related anchoring protein (NRAP, 1730 aa) is found in the myotendinous junction in skeletal muscle and the intercalated disc in cardiac muscle where it may anchor terminal thin filaments. See nebulette.

Subjects: Medicine and Health.


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