NP_001129412.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
35,147 Da
NCBI Official Full Name
myotilin isoform b
NCBI Official Synonym Full Names
myotilin
NCBI Official Synonym Symbols
MFM3; TTID; TTOD; LGMD1; LGMD1A [Similar Products]
NCBI Protein Information
myotilin
UniProt Protein Name
Myotilin
UniProt Synonym Protein Names
57 kDa cytoskeletal protein; Myofibrillar titin-like Ig domains protein; Titin immunoglobulin domain protein
UniProt Synonym Gene Names
UniProt Entry Name
MYOTI_HUMAN
NCBI Summary for MYOT
This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]
UniProt Comments for MYOT
MYOT: Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells. Defects in MYOT are the cause of limb-girdle muscular dystrophy type 1A (LGMD1A). LGMD1A is an autosomal dominant degenerative myopathy with onset within a mean age of 28 years. LGMD1A is characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the Z-line. Defects in MYOT are the cause of myopathy myofibrillar type 3 (MFM3). A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits. Defects in MYOT are the cause of spheroid body myopathy (SBM). SBM is an autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers. Belongs to the myotilin/palladin family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 5q31
Cellular Component: actin cytoskeleton; sarcolemma; Z disc
Molecular Function: actin binding; alpha-actinin binding; protein binding; structural constituent of muscle
Biological Process: muscle contraction
Disease: Muscular Dystrophy, Limb-girdle, Type 1a; Myopathy, Myofibrillar, 3; Myopathy, Spheroid Body
Research Articles on MYOT
Precautions
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Products associated with anti-MYOT antibody
Diseases associated with anti-MYOT antibody
Organs/Tissues associated with anti-MYOT antibody
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