- MYO15A
Myosin XVA, also known as MYO15A, is a human
gene .cite web | title = Entrez Gene: MYO15A myosin XVA| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51168| accessdate = ]PBB_Summary
section_title =
summary_text = 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. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts 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.cite web | title = Entrez Gene: MYO15A myosin XVA| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51168| accessdate = ]References
Further reading
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citations =
*cite journal | author=Kalay E, Uzumcu A, Krieger E, "et al." |title=MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. |journal=Am. J. Med. Genet. A |volume=143 |issue= 20 |pages= 2382-9 |year= 2007 |pmid= 17853461 |doi= 10.1002/ajmg.a.31937
*cite journal | author=Nal N, Ahmed ZM, Erkal E, "et al." |title=Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. |journal=Hum. Mutat. |volume=28 |issue= 10 |pages= 1014-9 |year= 2007 |pmid= 17546645 |doi= 10.1002/humu.20556
*cite journal | author=La Rosa S, Capella C, Lloyd RV |title=Localization of myosin XVA in endocrine tumors of gut and pancreas. |journal=Endocr. Pathol. |volume=13 |issue= 1 |pages= 29-37 |year= 2002 |pmid= 12114748 |doi=
*cite journal | author=Bi W, Yan J, Stankiewicz P, "et al." |title=Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. |journal=Genome Res. |volume=12 |issue= 5 |pages= 713-28 |year= 2002 |pmid= 11997338 |doi= 10.1101/gr.73702
*cite journal | author=Liburd N, Ghosh M, Riazuddin S, "et al." |title=Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. |journal=Hum. Genet. |volume=109 |issue= 5 |pages= 535-41 |year= 2001 |pmid= 11735029 |doi= 10.1007/s004390100604
*cite journal | author=Lloyd RV, Vidal S, Jin L, "et al." |title=Myosin XVA expression in the pituitary and in other neuroendocrine tissues and tumors. |journal=Am. J. Pathol. |volume=159 |issue= 4 |pages= 1375-82 |year= 2001 |pmid= 11583965 |doi=
*cite journal | author=Anderson DW, Probst FJ, Belyantseva IA, "et al." |title=The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells. |journal=Hum. Mol. Genet. |volume=9 |issue= 12 |pages= 1729-38 |year= 2000 |pmid= 10915760 |doi=
*cite journal | author=Liang Y, Wang A, Belyantseva IA, "et al." |title=Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2. |journal=Genomics |volume=61 |issue= 3 |pages= 243-58 |year= 2000 |pmid= 10552926 |doi= 10.1006/geno.1999.5976
*cite journal | author=Wang A, Liang Y, Fridell RA, "et al." |title=Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. |journal=Science |volume=280 |issue= 5368 |pages= 1447-51 |year= 1998 |pmid= 9603736 |doi=
*cite journal | author=Friedman TB, Liang Y, Weber JL, "et al." |title=A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. |journal=Nat. Genet. |volume=9 |issue= 1 |pages= 86-91 |year= 1995 |pmid= 7704031 |doi= 10.1038/ng0195-86PBB_Controls
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