MYO15A

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MYO15A
Identifiers
Aliases MYO15A, DFNB3, MYO15, myosin XVA
External IDs MGI: 1261811 HomoloGene: 56504 GeneCards: MYO15A
RNA expression pattern
PBB GE MYO15A 220288 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_016239

NM_001103171
NM_010862
NM_182698

RefSeq (protein)

NP_057323.3

NP_001096641.1
NP_034992.2
NP_874357.2

Location (UCSC) Chr 17: 18.11 – 18.18 Mb Chr 11: 60.47 – 60.53 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Myosin-XV is a protein that in humans is encoded by the MYO15A gene.[3][4]

Gene[edit]

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.[4]

Function[edit]

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.[4]

Clinical significance[edit]

Mutations in this gene have been associated with profound, congenital, neurosensory, non syndromic deafness .[5] This gene is located within the Smith-Magenis syndrome region on chromosome 17.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. doi:10.1126/science.280.5368.1447. PMID 9603736. 
  4. ^ a b c d "Entrez Gene: MYO15A myosin XVA". 
  5. ^ 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. doi:10.1371/journal.pone.0099797. PMC 4057390Freely accessible. PMID 24926664. 

Further reading[edit]