LOC554249
Loc554249: Unraveling the Enigma of a Complex Protein
Description
LOC554249, also known as obscurin, actin-binding coiled-coil protein, or obscurin-like 1, is a colossal protein encoded by the LOC554249 gene. It is a highly conserved protein found across various species, including humans, mice, and zebrafish. LOC554249 is a gigantic protein, boasting a staggering molecular weight of approximately 800 kDa and comprising over 8,000 amino acids. It is predominantly localized to the sarcomeres, which are contractile units within muscle cells responsible for muscle contraction.
LOC554249 has a complex domain structure, including several immunoglobulin-like domains, fibronectin type III domains, and ankyrin repeats. This intricate domain organization allows LOC554249 to interact with a multitude of proteins, including titin, myosin, and filamin. These interactions contribute to its pivotal role in maintaining the integrity and functionality of the sarcomere.
Associated Diseases
Mutations in the LOC554249 gene have been linked to several muscle disorders, including:
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Limb-girdle muscular dystrophy type 2J (LGMD2J): A progressive muscle disease characterized by weakness and atrophy of the muscles in the limb girdles (shoulders and hips).
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Myofibrillar myopathy (MFM): A genetic disorder that affects the structure and function of muscle fibers, leading to muscle weakness and wasting.
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Congenital myopathy: A rare muscle disease that manifests at birth or early infancy, causing severe muscle weakness and hypotonia (low muscle tone).
Did you Know ?
LOC554249 is one of the largest known proteins in humans. Its immense size and complex structure make it a fascinating subject of study for researchers seeking to understand the intricacies of muscle function and disease.
