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MYO15A

From Wikipedia, the free encyclopedia
MYO15A
Identifiers
AliasesMYO15A, DFNB3, MYO15, myosin XVA
External IDsOMIM: 602666; MGI: 1261811; HomoloGene: 56504; GeneCards: MYO15A; OMA:MYO15A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_016239

NM_001103171
NM_010862
NM_182698

RefSeq (protein)

NP_057323

NP_001096641
NP_034992
NP_874357

Location (UCSC)Chr 17: 18.11 – 18.18 MbChr 11: 60.36 – 60.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Unconventional myosin-XV is a protein that in humans is encoded by the MYO15A gene.[5][6]

Gene

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Read-through transcript containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined.[6]

Function

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This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea.[6]

Clinical significance

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Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromic deafness.[7] This gene is located within the Smith–Magenis syndrome region on chromosome 17.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000091536Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042678Ensembl, 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. ^ Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB (Jun 1998). "Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3". Science. 280 (5368): 1447–51. Bibcode:1998Sci...280.1447W. doi:10.1126/science.280.5368.1447. PMID 9603736.
  6. ^ a b c d "Entrez Gene: MYO15A myosin XVA".
  7. ^ Riahi, Z; Bonnet, C; Zainine, R; Louha, M; Bouyacoub, Y; Laroussi, N; Chargui, M; Kefi, R; Jonard, L; Dorboz, I; Hardelin, J. P.; Salah, S. B.; Levilliers, J; Weil, D; McElreavey, K; Boespflug, O. T.; Besbes, G; Abdelhak, S; Petit, C (2014). "Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness". PLOS ONE. 9 (6): e99797. Bibcode:2014PLoSO...999797R. doi:10.1371/journal.pone.0099797. PMC 4057390. PMID 24926664.

Further reading

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