MYO15A

From Wikipedia, the free encyclopedia

Myosin XVA

Identifiers

MYO15A; DFNB3; DKFZp686N18198; MYO15

External IDs

OMIM: 602666 MGI: 1261811 HomoloGene: 56504

Gene ontology
Molecular Function:	• nucleotide binding • motor activity • actin binding • structural molecule activity • calmodulin binding • ATP binding
Cellular Component:	• cytoskeleton • myosin complex
Biological Process:	• sensory perception of sound • inner ear morphogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_016239 (mRNA)
NP_057323 (protein)

XM_994684 (mRNA)
XP_999778 (protein)

Location

Chr 17: 17.95 - 18.02 Mb

n/a

Pubmed search

[1]

[2]

Myosin XVA, also known as MYO15A, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: MYO15A myosin XVA.

[edit] 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. 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. PMID 11997338.
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. PMID 11583965.
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. 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.
Wang A, Liang Y, Fridell RA, et al. (1998). "Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.". Science 280 (5368): 1447-51. PMID 9603736.
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.