MYO15A
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MYO15A
| Myosin XVA | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | MYO15A; DFNB3; DKFZp686N18198; FLJ17274; FLJ31311; MYO15 | ||||||||||||
| External IDs | OMIM: 602666 MGI: 1261811 HomoloGene: 56504 GeneCards: MYO15A Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 51168 | 17910 | |||||||||||
| Ensembl | ENSG00000091536 | ENSMUSG00000042678 | |||||||||||
| UniProt | Q9UKN7 | n/a | |||||||||||
| RefSeq (mRNA) | NM_016239 | XM_994684 | |||||||||||
| RefSeq (protein) | NP_057323 | XP_999778 | |||||||||||
| Location (UCSC) | Chr 17: 18.01 – 18.08 Mb |
Chr 11: 60.28 – 60.34 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Myosin-XV is a protein that in humans is encoded by the MYO15A gene.[1][2]
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.[2]
References
- ^ 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.
- ^ a b "Entrez Gene: MYO15A myosin XVA". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51168.
Further reading
- Kalay E, Uzumcu A, Krieger E, et al. (2007). "MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation". Am. J. Med. Genet. A 143 (20): 2382–9. doi:10.1002/ajmg.a.31937. PMID 17853461.
- Nal N, Ahmed ZM, Erkal E, et al. (2007). "Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing". Hum. Mutat. 28 (10): 1014–9. doi:10.1002/humu.20556. PMID 17546645.
- La Rosa S, Capella C, Lloyd RV (2002). "Localization of myosin XVA in endocrine tumors of gut and pancreas". Endocr. Pathol. 13 (1): 29–37. doi:10.1385/EP:13:1:29. PMID 12114748.
- Bi W, Yan J, Stankiewicz P, et al. (2002). "Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse". Genome Res. 12 (5): 713–28. doi:10.1101/gr.73702. PMC 186594. PMID 11997338. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=186594.
- Liburd N, Ghosh M, Riazuddin S, et al. (2001). "Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome". Hum. Genet. 109 (5): 535–41. doi:10.1007/s004390100604. PMID 11735029.
- Lloyd RV, Vidal S, Jin L, et al. (2001). "Myosin XVA Expression in the Pituitary and in Other Neuroendocrine Tissues and Tumors". Am. J. Pathol. 159 (4): 1375–82. doi:10.1016/S0002-9440(10)62524-2. PMC 1850513. PMID 11583965. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1850513.
- Anderson DW, Probst FJ, Belyantseva IA, et al. (2000). "The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells". Hum. Mol. Genet. 9 (12): 1729–38. doi:10.1093/hmg/9.12.1729. PMID 10915760.
- Liang Y, Wang A, Belyantseva IA, et al. (2000). "Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2". Genomics 61 (3): 243–58. doi:10.1006/geno.1999.5976. PMID 10552926.
- Friedman TB, Liang Y, Weber JL, et al. (1995). "A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17". Nat. Genet. 9 (1): 86–91. doi:10.1038/ng0195-86. PMID 7704031.
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