MYH14
Protein-coding gene in the species Homo sapiens
MYH14 Identifiers Aliases MYH14 External IDs OMIM : 608568 ; MGI : 1919210 ; HomoloGene : 23480 ; GeneCards : MYH14 ; OMA :MYH14 - orthologs Wikidata
Myosin-14 is a protein that in humans is encoded by the MYH14 gene .[ 5] [ 6] [ 7]
This gene encodes a member of the myosin superfamily . 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.[ 7]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000105357 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030739 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Leal A, Endele S, Stengel C, Huehne K, Loetterle J, Barrantes R, Winterpacht A, Rautenstrauss B (Aug 2003). "A novel myosin heavy chain gene in human chromosome 19q13.3". Gene . 312 : 165–71. doi :10.1016/S0378-1119(03)00613-9 . PMID 12909352 . ^ Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nurnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A (Mar 2004). "Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)" . Am J Hum Genet . 74 (4): 770–6. doi :10.1086/383285 . PMC 1181955 PMID 15015131 . ^ a b "Entrez Gene: MYH14 myosin, heavy chain 14" .
Further reading
Chen AH, Ni L, Fukushima K, et al. (1995). "Linkage of a gene for dominant non-syndromic deafness to chromosome 19". Hum. Mol. Genet . 4 (6): 1073–6. doi :10.1093/hmg/4.6.1073 . PMID 7655461 . Shoeman RL, Sachse C, Höner B, et al. (1993). "Cleavage of human and mouse cytoskeletal and sarcomeric proteins by human immunodeficiency virus type 1 protease. Actin, desmin, myosin, and tropomyosin" . Am. J. Pathol . 142 (1): 221–30. PMC 1886840 PMID 8424456 . Xu XR, Huang J, Xu ZG, et al. (2002). "Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver" . Proc. Natl. Acad. Sci. U.S.A . 98 (26): 15089–94. Bibcode :2001PNAS...9815089X . doi :10.1073/pnas.241522398 PMC 64988 PMID 11752456 . Desjardins PR, Burkman JM, Shrager JB, et al. (2002). "Evolutionary implications of three novel members of the human sarcomeric myosin heavy chain gene family" . Mol. Biol. Evol . 19 (4): 375–93. doi :10.1093/oxfordjournals.molbev.a004093 PMID 11919279 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Golomb E, Ma X, Jana SS, et al. (2004). "Identification and characterization of nonmuscle myosin II-C, a new member of the myosin II family" . J. Biol. Chem . 279 (4): 2800–8. doi :10.1074/jbc.M309981200 PMID 14594953 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Bouwmeester T, Bauch A, Ruffner H, et al. (2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nat. Cell Biol . 6 (2): 97–105. doi :10.1038/ncb1086 . PMID 14743216 . S2CID 11683986 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression" . Proc. Natl. Acad. Sci. U.S.A . 101 (44): 15724–9. Bibcode :2004PNAS..10115724W . doi :10.1073/pnas.0404089101 PMC 524842 PMID 15498874 . Kim KY, Kovács M, Kawamoto S, et al. (2005). "Disease-associated mutations and alternative splicing alter the enzymatic and motile activity of nonmuscle myosins II-B and II-C" . J. Biol. Chem . 280 (24): 22769–75. doi :10.1074/jbc.M503488200 PMID 15845534 . Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration" . Cell . 125 (4): 801–14. doi :10.1016/j.cell.2006.03.032 PMID 16713569 . S2CID 13709685 .
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