Gene: MYH14

Alternate names for this Gene: DFNA4|DFNA4A|FP17425|MHC16|MYH17|NMHC II-C|NMHC-II-C|PNMHH|myosin

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.33

Description of this Gene: myosin heavy chain 14

Type of Gene: protein-coding

rs28940306 in MYH14 gene and Deafness, Autosomal Dominant 4 PMID 15015131 2004 Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).

PMID 16222661 2005 Genetic heterogeneity of deafness phenotypes linked to DFNA4.

PMID 30828794 2019 Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.

rs113993956 in MYH14 gene and PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS PMID 21480433 2011 A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

rs1377817 in MYH14 gene and Platinum measurement PMID 31296530 2019 Clinical and Genome-Wide Analysis of Serum Platinum Levels after Cisplatin-Based Chemotherapy.