ID:MYH14_HUMAN DESCRIPTION: RecName: Full=Myosin-14; AltName: Full=Myosin heavy chain 14; AltName: Full=Myosin heavy chain, non-muscle IIc; AltName: Full=Non-muscle myosin heavy chain IIc; Short=NMHC II-C; FUNCTION: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping (By similarity). SUBUNIT: Myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2) (By similarity). TISSUE SPECIFICITY: High 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. DOMAIN: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils (By similarity). DISEASE: Defects 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. DISEASE: 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. SIMILARITY: Contains 1 IQ domain. SIMILARITY: Contains 1 myosin head-like domain. SEQUENCE CAUTION: Sequence=AAO39147.1; Type=Frameshift; Positions=1017, 1057; Sequence=AAP34449.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAP34449.1; Type=Frameshift; Positions=1016, 1057, 1490, 1755; Sequence=BAB14735.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BG468611; Type=Erroneous termination; Positions=403; Note=Translated as Leu;
Protein Domain and Structure Information
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