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Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Additionally we are shipping Myosin Heavy Chain 3, Skeletal Muscle, Embryonic Antibodies (28) and Myosin Heavy Chain 3, Skeletal Muscle, Embryonic Kits (6) and many more products for this protein.
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Our findings demonstrate that dominant mutations in MYH3 underlie autosomal dominant SCT, identify a postnatal role for embryonic myosin and suggest that altered regulation of signal transduction in the muscles within the spine may lead to the development of vertebral fusions.
our patient is the first reported case of a child with classical FSS, caused by a common MYH3 mutation, who has an unaffected mother with molecularly proven somatic mosaicism, who is also a likely gonadal mosaic. This case emphasizes the importance of parental genetic testing, when a clinically apparent de novo diagnosis is suspected in a child.
Protein-altering variants of MYH3 were identified in two families with symptoms related to autosomal dominant spondylocarpotarsal synostosis syndrome.
MYH3 mutations are associated with Freeman-Sheldon Syndrome.
developmental p.Thr178Ile MYH3 myopathy is associated with a combined pathomechanism of insufficient dosage of functional embryonic MyHC and production of mutant protein
The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle
The phenotypic overlap among persons with MPS, coupled with physical findings distinct from other conditions caused by mutations in MYH3.
Molecular genetic investigations revealed pathogenic mutations in MYH3, TPM2 (show TPM2 Proteins), and TNNI2 (show TNNI2 Proteins) in one sporadic and 19 familial cases of distal arthrogryposis.
Identification of an MYH3 mutation in this family with distal arthrogryposis type 1 broadens the phenotype associated with MYH3 mutations to include distal arthrogryposis types 1, 2A (Freeman-Sheldon syndrome), and 2B (Sheldon-Hall syndrome).
show that mutations in the embryonic myosin heavy chain 3 gene cause Freeman-Sheldon syndrome, one of the most severe multiple congenital contracture syndromes, and nearly 1/3 of all cases of Sheldon-Hall syndrome, the most common distal arthrogryposis
the result of the study proved that polymorphisms in MYH3 gene are associated with the growth performance of Chinese Qinchuan cattle.
The results showed that some MYH3 genotypes had a significant effect on the growth and carcass traits.
Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
myosin heavy chain, fast skeletal muscle, embryonic
, myosin, heavy polypeptide 3, skeletal muscle, embryonic
, myosin, skeletal, heavy chain, embryonic 1
, myosin heavy chain 3
, myosin heavy polypeptide 3
, embryonic skeletal myosin heavy chain isoform
, Myosin heavy chain A
, embryonic myosin heavy chain
, embryonic/neonatal myosin heavy chain