LRTOMT

LRTOMT
Identifiers
Aliases	LRTOMT, CFAP111, DFNB63, LRRC51, leucine rich transmembrane and O-methyltransferase domain containing, TOMT, LRRC51-TOMT
External IDs	OMIM: 612414; MGI: 3769724; HomoloGene: 19664; GeneCards: LRTOMT; OMA:LRTOMT - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11q13.4 Start 72,080,331 bp End 72,110,782 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7 E2|7 Start 101,547,577 bp End 101,555,566 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle right testis left testis olfactory zone of nasal mucosa ganglionic eminence stromal cell of endometrium uterine tube islet of Langerhans gonad ventricular zone Top expressed in morula embryo granulocyte blastocyst primary oocyte epiblast white adipose tissue placenta ovary proximal tubule More reference expression data BioGPS n/a
Gene ontology Molecular function methyltransferase activity transferase activity O-methyltransferase activity L-dopa O-methyltransferase activity catechol O-methyltransferase activity orcinol O-methyltransferase activity Cellular component cytoplasm integral component of membrane membrane plasma membrane endoplasmic reticulum cellular component Biological process methylation hearing catecholamine metabolic process neurotransmitter catabolic process catecholamine catabolic process auditory receptor cell development developmental process dopamine metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 220074 791260 Ensembl ENSG00000284922 ENSMUSG00000078630 UniProt Q8WZ04 Q96E66 A1Y9I9 RefSeq (mRNA) NM_001145308 NM_001145309 NM_001145310 NM_001081679 NM_001282088 RefSeq (protein) NP_001138779 NP_001138780 NP_001138781 NP_001138782 NP_001192067 NP_001258400 NP_001305732 NP_660352 NP_001138779.1 NP_001192067.1 NP_001258400.1 NP_660352.1 NP_001305732.1 NP_001075148 NP_001269017 Location (UCSC) Chr 11: 72.08 – 72.11 Mb Chr 7: 101.55 – 101.56 Mb PubMed search
Wikidata
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Leucine rich transmembrane and O-methyltransferase domain containing is a protein that in humans is encoded by the LRTOMT gene.

Clinical significance

Mutations in LRTOMT are associated to non syndromic deafness.

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.

Further reading

• Khan SY, Riazuddin S, Tariq M, Anwar S, Shabbir MI, Riazuddin SA, Khan SN, Husnain T, Ahmed ZM, Friedman TB, Riazuddin S (February 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 AF, Yasar T, Collin RW, Heister JG, Oostrik J, Cremers CW, Brunner HG, Karaguzel A, Kremer H (April 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.
• "Deafness and Hereditary Hearing Loss Overview". 1993. PMID 20301607. {{cite journal}}: Cite journal requires |journal= (help)
• Vanwesemael M, Schrauwen I, Ceuppens R, Alasti F, Jorssen E, Farrokhi E, Chaleshtori MH, Van Camp G (August 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 (December 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 IB, Chouchen J, Turki K, Benzina Z, Charfedine I, Drira M, Ayadi H (March 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 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 (September 2008). "A catechol-O-methyltransferase that is essential for auditory function in mice and humans". Proceedings of the National Academy of Sciences of the United States of America. 105 (38): 14609–14. doi:10.1073/pnas.0807219105. PMC 2567147. PMID 18794526.
• 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 (November 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.