MYO15A

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Myosin XVA
Identifiers
Symbols MYO15A ; DFNB3; MYO15
External IDs OMIM602666 MGI1261811 HomoloGene56504 GeneCards: MYO15A Gene
RNA expression pattern
PBB GE MYO15A 220288 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 51168 17910
Ensembl ENSG00000091536 ENSMUSG00000042678
UniProt Q9UKN7 Q9QZZ4
RefSeq (mRNA) NM_016239 NM_001103171
RefSeq (protein) NP_057323 NP_001096641
Location (UCSC) Chr 17:
18.01 – 18.08 Mb
Chr 11:
60.47 – 60.53 Mb
PubMed search [1] [2]

Myosin-XV is a protein that in humans is encoded by the MYO15A gene.[1][2]

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.[2]

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.[2]

Clinical significance[edit]

Mutations in this gene have been associated with profound, congenital, neurosensory, non syndromic deafness .[3] This gene is located within the Smith-Magenis syndrome region on chromosome 17.[2]

References[edit]

  1. ^ 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. 
  2. ^ a b c d "Entrez Gene: MYO15A myosin XVA". 
  3. ^ 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. PMID 24926664.  edit

Further reading[edit]