myosin heavy chain 14
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.
Covered on Genetics Home Reference:
From NCBI Gene:
- Deafness, autosomal dominant 4
- Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH): 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. [MIM:614369]
Deafness, autosomal dominant, 4A (DFNA4A): A form of non-syndromic 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. [MIM:600652]
- NMHC II-C