The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/5000. Predicted molecular weight: 228 kDa.
FunctionCellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.
Tissue specificityHigh levels of expression are found in small intestine, colon and skeletal muscle. Expression is low in organs composed mainly of smooth muscle, such as aorta, uterus and urinary bladder. No detectable expression is found in thymus, spleen, placenta and lymphocytes.
Involvement in diseaseDefects in MYH14 are the cause of deafness autosomal dominant type 4A (DFNA4A) [MIM:600652]. A form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Defects in MYH14 are the cause of peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) [MIM:614369]. PNMHH is a complex phenotype of progressive peripheral neuropathy and distal myopathy, with later onset of hoarseness and hearing loss. Affected individuals develop distal muscle weakness at a mean age of 10.6 years, followed by progressive atrophy of these muscles. The lower limbs are more severely affected than the upper limbs, and the muscle weakness first affects anterior leg muscles and later posterior leg muscles.
Sequence similaritiesContains 1 IQ domain. Contains 1 myosin head-like domain.
DomainThe rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.