MYH14 Antibody

1. This is the first identification of mutations in MYH14 as a cause of Anorectal malformations. PMID: 28191911
2. By reporting two novel variants of MYH14, we suggest that the present study extends the phenotypic spectrum of autosomal dominant MYH14 variants to include nonsyndromic, severe-to-profound hearing loss with prelingual onset. PMID: 28221712
3. phosphorylation of human cardiac myosin regulatory light chain prevents development of hypertrophic cardiomyopathy in mice PMID: 26124132
4. The data show that although NM IIA and IIB form filaments with similar properties, NM IIC forms filaments that are less well suited to roles such as tension maintenance within the cell. PMID: 24072716
5. Results support the hypothesis that there is another DFNA gene upstream of the MYH14 gene and it may be linked to the DFNA4 locus. PMID: 23273769
6. the alterations of the MYH14 gene may contribute to Myotonic dystrophy type 1 molecular pathogenesis. PMID: 21872659
7. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14 PMID: 21480433
8. kinetic and functional characterization of the motor domains of human nonmuscle myosin-2C isoforms PMID: 21478157
9. data identify CEACAM16 as an alpha-tectorin-interacting protein that concentrates at the point of attachment of the TM to the stereocilia and, when mutated, results in ADNSHL at the DFNA4 locus PMID: 21368133
10. Mutation in MYH14 gene can cause dominant non-syndromic hearing impairment in Asian population, suggesting that MYH14 gene can be a disease-causing gene of Chinese patients with hearing impairment. PMID: 20533261
11. mutational screening in a large series of 300 hearing-impaired patients from Italy, Spain, and Belgium and in a German kindred linked to DFNA4 PMID: 15015131
12. mutations and alternative splicing alter the enzymatic and motile activity of nonmuscle myosins II-B and II-C PMID: 15845534
13. data do not support the involvement of MYH14 in cleft lip and palate among the Italian population PMID: 18471249
14. the alternatively spliced isoform of non-muscle myosin II-C is not regulated by myosin light chain phosphorylation PMID: 19240025

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HGNC: 23212

OMIM: 600652

KEGG: hsa:79784

STRING: 9606.ENSP00000262269

UniGene: Hs.467142