From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
MYH14 Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes
5JLH
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]
^ 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" .
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