MYO15A

MYO15A
Identifiers
Aliases MYO15A, DFNB3, MYO15, myosin XVA
External IDs MGI: 1261811 HomoloGene: 56504 GeneCards: MYO15A
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

51168

17910

Ensembl

ENSG00000091536

ENSMUSG00000042678

UniProt

Q9UKN7

Q9QZZ4

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 HumanView/Edit Mouse

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

Gene

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

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

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

  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. 1 2 3 4 "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


This article is issued from Wikipedia - version of the 11/13/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.