Property Summary

NCBI Gene PubMed Count 12
PubMed Score 13.43
PubTator Score 12.66

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (2)

Expression

Gene RIF (8)

PMID Text
25788562 Results indicate that mutations in the LRT)MT gene lead to alterations in the LRTOMT2 protein and might be involved in progressive sensorineural hearing loss.
23053991 LRTOMT gene is the second cause of congenital hearing impairment in Moroccan patients.
21739586 A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.
18953341 Mutations of LRTOMT are associated with profound nonsyndromic hearing loss at the DFNB63 locus on human chromosome 11q13.3-q13.4.
18794526 nonsense mutation in the human ortholog of the murine Comt2 gene that causes nonsyndromic deafness
17211611 The locus associated with ARNSHI
17166180 Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081.
17066295 A genome wide linkage analysis of nonsyndromic deafness segregating in a consanguineous Pakistani family (PKDF537) was used to identify DFNB63, a new locus for congenital profound sensorineural hearing loss.

AA Sequence

MGTPWRKRKGIAGPGLPDLSCALVLQPRAQVGTMSPAIALAFLPLVVTLLVRYRHYFRLLVRTVLLRSLR      1 - 70
DCLSGLRIEERAFSYVLTHALPGDPGHILTTLDHWSSRCEYLSHMGPVKGQILMRLVEEKAPACVLELGT     71 - 140
YCGYSTLLIARALPPGGRLLTVERDPRTAAVAEKLIRLAGFDEHMVELIVGSSEDVIPCLRTQYQLSRAD    141 - 210
LVLLAHRPRCYLRDLQLLEAHALLPAGATVLADHVLFPGAPRFLQYAKSCGRYRCRLHHTGLPDFPAIKD    211 - 280
GIAQLTYAGPG                                                               281 - 291
//

Text Mined References (14)

PMID Year Title
25788562 2015 Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance.
23053991 2012 The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population.
21739586 2011 A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.
18953341 2008 Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
18794526 2008 A catechol-O-methyltransferase that is essential for auditory function in mice and humans.
17211611 2007 A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.
17166180 2007 Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.
17066295 2007 Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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