LRTOMT
| Leucine rich transmembrane and O-methyltransferase domain containing | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | LRTOMT ; CFAP111; DFNB63; LRRC51 | ||||||||||||
| External IDs | OMIM: 612414 HomoloGene: 19664 GeneCards: LRTOMT Gene | ||||||||||||
| EC number | 2.1.1.6 | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 220074 | 791260 | |||||||||||
| Ensembl | ENSG00000184154 | ENSMUSG00000078630 | |||||||||||
| UniProt | Q8WZ04 | A1Y9I9 | |||||||||||
| RefSeq (mRNA) | NM_001145307 | NM_001081679 | |||||||||||
| RefSeq (protein) | NP_001138779 | NP_001075148 | |||||||||||
| Location (UCSC) |
Chr 11: 72.08 – 72.11 Mb |
Chr 7: 101.9 – 101.91 Mb | |||||||||||
| PubMed search | |||||||||||||
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 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. [provided by RefSeq, Sep 2012].
References
- ↑ "Entrez Gene: Leucine rich transmembrane and O-methyltransferase domain containing". Retrieved 2014-06-16.
- ↑ 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.
Further reading
- Khan, S. Y.; Riazuddin, S; Tariq, M; Anwar, S; Shabbir, M. I.; Riazuddin, S. A.; Khan, S. N.; Husnain, T; Ahmed, Z. M.; Friedman, T. B.; Riazuddin, S (2007). "Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3". Human Genetics 120 (6): 789–93. doi:10.1007/s00439-006-0275-1. PMID 17066295.
- Kalay, E; Caylan, R; Kiroglu, A. F.; Yasar, T; Collin, R. W.; Heister, J. G.; Oostrik, J; Cremers, C. W.; Brunner, H. G.; Karaguzel, A; Kremer, H (2007). "A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4". Journal of Molecular Medicine 85 (4): 397–404. doi:10.1007/s00109-006-0136-3. PMID 17211611.
- Smith, R.; Hildebrand, M.; Van Camp, G.; Pagon, R.; Bird, T.; Dolan, C.; Stephens, K. (1993). "Deafness and Hereditary Hearing Loss Overview". PMID 20301607.
- Vanwesemael, M; Schrauwen, I; Ceuppens, R; Alasti, F; Jorssen, E; Farrokhi, E; Chaleshtori, M. H.; Van Camp, G (2011). "A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame". American Journal of Medical Genetics Part A 155A (8): 2021–3. doi:10.1002/ajmg.a.34096. PMID 21739586.
- Charif, M; Bounaceur, S; Abidi, O; Nahili, H; Rouba, H; Kandil, M; Boulouiz, R; Barakat, A (2012). "The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population". Molecular Biology Reports 39 (12): 11011–6. doi:10.1007/s11033-012-2003-3. PMID 23053991.
- Tlili, A; Masmoudi, S; Dhouib, H; Bouaziz, S; Rebeh, I. B.; Chouchen, J; Turki, K; Benzina, Z; Charfedine, I; Drira, M; Ayadi, H (2007). "Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4". Annals of Human Genetics 71 (Pt 2): 271–5. doi:10.1111/j.1469-1809.2006.00337.x. PMID 17166180.
- Du, X.; Schwander, M.; Moresco, E. M. Y.; Viviani, P.; Haller, C.; Hildebrand, M. S.; Pak, K.; Tarantino, L.; Roberts, A.; Richardson, H.; Koob, G.; Najmabadi, H.; Ryan, A. F.; Smith, R. J. H.; Muller, U.; Beutler, B. (2008). "A catechol-O-methyltransferase that is essential for auditory function in mice and humans". Proceedings of the National Academy of Sciences 105 (38): 14609–14614. doi:10.1073/pnas.0807219105. PMC 2567147. PMID 18794526.
- Ahmed, Z. M.; Masmoudi, S; Kalay, E; Belyantseva, I. A.; Mosrati, M. A.; Collin, R. W.; Riazuddin, S; Hmani-Aifa, M; Venselaar, H; Kawar, M. N.; Tlili, A; Van Der Zwaag, B; Khan, S. Y.; Ayadi, L; Riazuddin, S. A.; Morell, R. J.; Griffith, A. J.; Charfedine, I; Caylan, R; Oostrik, J; Karaguzel, A; Ghorbel, A; Riazuddin, S; Friedman, T. B.; Ayadi, H; Kremer, H (2008). "Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans". Nature Genetics 40 (11): 1335–40. doi:10.1038/ng.245. PMC 3404732. PMID 18953341.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.