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MYH14

From Wikipedia, the free encyclopedia
MYH14
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMYH14, DFNA4, DFNA4A, MHC16, MYH17, NMHC II-C, NMHC-II-C, PNMHH, myosin, FP17425, myosin, heavy chain 14, non-muscle, myosin heavy chain 14
External IDsOMIM: 608568; MGI: 1919210; HomoloGene: 23480; GeneCards: MYH14; OMA:MYH14 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001077186
NM_001145809
NM_024729

NM_001271538
NM_001271540
NM_028021

RefSeq (protein)

NP_001070654
NP_001139281
NP_079005

NP_001258467
NP_001258469
NP_082297

Location (UCSC)Chr 19: 50.19 – 50.31 MbChr 7: 44.26 – 44.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000105357Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030739Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: MYH14 myosin, heavy chain 14".

Further reading

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