| 释义 |
- Clinical significance
- Function
- References
- Further reading
{{Infobox_gene}}Leucine rich transmembrane and O-methyltransferase domain containing is a protein that in humans is encoded by the LRTOMT gene.[1] Clinical significance Mutations in LRTOMT are associated to {{SWL|type=mutations_associated_to|target=Non-syndromic deafness|label=non syndromic deafness}}.[2] Function This gene includes two transcript forms. The short form has one open reading frame (ORF), which encodes the leucine-rich repeats (LRR)-containing protein of unknown function. This protein is called LRTOMT1 or LRRC51. The long form has two alternative ORFs; the upstream ORF has the same translation start codon as used in the short form and the resulting transcript is a candidate for nonsense-mediated decay, and the downstream ORF encodes a different protein, which is a transmembrane catechol-O-methyltransferase and is called LRTOMT2, TOMT or COMT2. The COMT2 is essential for auditory and vestibular function. Defects in the COMT2 can cause nonsyndromic deafness. Alternatively spliced transcript variants from each transcript form have been found for this gene. References 1. ^{{cite web | title = Entrez Gene: Leucine rich transmembrane and O-methyltransferase domain containing | url = https://www.ncbi.nlm.nih.gov/gene/220074 }}
2. ^{{cite journal | vauthors = Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, Chargui M, Kefi R, Jonard L, Dorboz I, Hardelin JP, Salah SB, Levilliers J, Weil D, McElreavey K, Boespflug OT, Besbes G, Abdelhak S, Petit C | title = Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness | journal = PLoS One | volume = 9 | issue = 6 | pages = e99797 | year = 2014 | pmid = 24926664 | pmc = 4057390 | doi = 10.1371/journal.pone.0099797 }}
Further reading {{refbegin | 2}}- {{cite journal | vauthors = Khan SY, Riazuddin S, Tariq M, Anwar S, Shabbir MI, Riazuddin SA, Khan SN, Husnain T, Ahmed ZM, Friedman TB, Riazuddin S | title = Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3 | journal = Human Genetics | volume = 120 | issue = 6 | pages = 789–93 | date = February 2007 | pmid = 17066295 | doi = 10.1007/s00439-006-0275-1 }}
- {{cite journal | vauthors = Kalay E, Caylan R, Kiroglu AF, Yasar T, Collin RW, Heister JG, Oostrik J, Cremers CW, Brunner HG, Karaguzel A, Kremer H | title = A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4 | journal = Journal of Molecular Medicine | volume = 85 | issue = 4 | pages = 397–404 | date = April 2007 | pmid = 17211611 | doi = 10.1007/s00109-006-0136-3 }}
- {{cite journal | vauthors = | title = Deafness and Hereditary Hearing Loss Overview | year = 1993 | pmid = 20301607 }}
- {{cite journal | vauthors = Vanwesemael M, Schrauwen I, Ceuppens R, Alasti F, Jorssen E, Farrokhi E, Chaleshtori MH, Van Camp G | title = A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame | journal = American Journal of Medical Genetics. Part A | volume = 155A | issue = 8 | pages = 2021–3 | date = August 2011 | pmid = 21739586 | doi = 10.1002/ajmg.a.34096 }}
- {{cite journal | vauthors = Charif M, Bounaceur S, Abidi O, Nahili H, Rouba H, Kandil M, Boulouiz R, Barakat A | title = The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population | journal = Molecular Biology Reports | volume = 39 | issue = 12 | pages = 11011–6 | date = December 2012 | pmid = 23053991 | doi = 10.1007/s11033-012-2003-3 }}
- {{cite journal | vauthors = Tlili A, Masmoudi S, Dhouib H, Bouaziz S, Rebeh IB, Chouchen J, Turki K, Benzina Z, Charfedine I, Drira M, Ayadi H | title = Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4 | journal = Annals of Human Genetics | volume = 71 | issue = Pt 2 | pages = 271–5 | date = March 2007 | pmid = 17166180 | doi = 10.1111/j.1469-1809.2006.00337.x }}
- {{cite journal | vauthors = Du X, Schwander M, Moresco EM, Viviani P, Haller C, Hildebrand MS, Pak K, Tarantino L, Roberts A, Richardson H, Koob G, Najmabadi H, Ryan AF, Smith RJ, Müller U, Beutler B | title = A catechol-O-methyltransferase that is essential for auditory function in mice and humans | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 105 | issue = 38 | pages = 14609–14 | date = September 2008 | pmid = 18794526 | pmc = 2567147 | doi = 10.1073/pnas.0807219105 }}
- {{cite journal | vauthors = Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H | title = Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans | journal = Nature Genetics | volume = 40 | issue = 11 | pages = 1335–40 | date = November 2008 | pmid = 18953341 | pmc = 3404732 | doi = 10.1038/ng.245 }}
{{refend}}{{NLM content}}{{gene-11-stub}} |