LRTOMT (leucine rich transmembrane and O-methyltransferase domain containing)
2014-11-01 AffiliationIdentity
HGNC
LOCATION
11q13.4
LOCUSID
ALIAS
CFAP111,DFNB63,LRRC51
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 220074
MIM: 612414
HGNC: 25033
Ensembl: ENSG00000184154
Variants:
dbSNP: 220074
ClinVar: 220074
TCGA: ENSG00000184154
COSMIC: LRTOMT
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36928321 | 2023 | Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness. | 0 |
| 36928321 | 2023 | Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness. | 0 |
| 34514748 | 2021 | Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies. | 3 |
| 34514748 | 2021 | Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies. | 3 |
| 32517708 | 2020 | A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. | 2 |
| 32517708 | 2020 | A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. | 2 |
| 25788562 | 2015 | Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance. | 5 |
| 25788562 | 2015 | Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance. | 5 |
| 23053991 | 2012 | The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population. | 4 |
| 23053991 | 2012 | The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population. | 4 |
| 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. | 2 |
| 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. | 2 |
| 18794526 | 2008 | A catechol-O-methyltransferase that is essential for auditory function in mice and humans. | 28 |
| 18953341 | 2008 | Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. | 34 |
| 18794526 | 2008 | A catechol-O-methyltransferase that is essential for auditory function in mice and humans. | 28 |
Citation
Dessen P
LRTOMT (leucine rich transmembrane and O-methyltransferase domain containing)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/68678/lrtomt-(leucine-rich-transmembrane-and-o-methyltransferase-domain-containing)
