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Aliases for LRTOMT Gene

Aliases for LRTOMT Gene

  • Leucine Rich Transmembrane And O-Methyltransferase Domain Containing 2 3 5
  • LRRC51 3 4
  • Leucine Rich Transmembrane And 0-Methyltransferase Domain Containing 3
  • Leucine-Rich Repeat-Containing Protein 51 3
  • Transmembrane O-Methyltransferase 3
  • Leucine Rich Repeat Containing 51 2
  • Deafness, Autosomal Recessive 63 2
  • Catechol O-Methyltransferase 2 4
  • Protein LRTOMT1 4
  • Protein LRTOMT2 4
  • EC 2.1.1.6 4
  • CFAP111 3
  • DFNB63 3
  • COMT2 4
  • TOMT 4

External Ids for LRTOMT Gene

Previous HGNC Symbols for LRTOMT Gene

  • LRRC51
  • DFNB63

Previous GeneCards Identifiers for LRTOMT Gene

  • GC11P071471
  • GC11P071792
  • GC11P068084

Summaries for LRTOMT Gene

Entrez Gene Summary for LRTOMT Gene

  • This gene has evolved in primates as a fusion of two ancestral neighboring genes, Lrrc51 and Tomt, which exist as two independent genes in rodents. The fusion gene contains some shared exons, but encodes structurally unrelated proteins, LRTOMT1 and LRTOMT2. Those variants that utilize the more centromere-proximal 3' terminal exon (short transcript form) encode LRTOMT1, while those variants that use a more centromere-distal 3' terminal exon (long transcript form) encode the LRTOMT2 protein. There is a small region within one of the exons of this gene that contains overlapping alternate reading frames for both LRTOMT1 and LRTOMT2. LRTOMT1 shares similarity with the protein encoded by mouse Lrrc51, while LRTOMT2 shares similarity with the protein encoded by mouse Tomt. Alternative splicing results in multiple transcript variants, encoding different isoforms of both LRTOMT1 and LRTOMT2. The LRTOMT1 protein is a leucine-rich repeat-containing protein, while the LRTOMT2 protein is a catechol-O-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to a hydroxyl group of catechols and is essential for auditory and vestibular function. Mutations in this gene have been associated with nonsyndromic deafness. [provided by RefSeq, Nov 2017]

GeneCards Summary for LRTOMT Gene

LRTOMT (Leucine Rich Transmembrane And O-Methyltransferase Domain Containing) is a Protein Coding gene. Diseases associated with LRTOMT include Deafness, Autosomal Recessive 63 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are noradrenaline and adrenaline degradation and Steroid hormone biosynthesis. Gene Ontology (GO) annotations related to this gene include O-methyltransferase activity and catechol O-methyltransferase activity. An important paralog of this gene is ENSG00000284844.

UniProtKB/Swiss-Prot for LRTOMT Gene

  • Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function (PubMed:18794526). Component of the cochlear hair cells mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity (By similarity).

Additional gene information for LRTOMT Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRTOMT Gene

Genomics for LRTOMT Gene

GeneHancer (GH) Regulatory Elements for LRTOMT Gene

Promoters and enhancers for LRTOMT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J072077 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 655.4 +0.5 528 5.9 HDGF PKNOX1 SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B YY1 NUMA1 LRTOMT ENSG00000284922 LOC100128494 FAM86C1 NADSYN1 IL18BP OR7E128P ZNF705E RNF121
GH11J072098 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 15.5 +21.5 21478 6 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 LAMTOR1 FAM86C1 NUMA1 LOC100128494 LRTOMT ZNF705E RNF121 IL18BP OR7E128P ENSG00000204971
GH11J071995 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 14.7 -81.8 -81821 5.1 PKNOX1 ARNT TCF12 ZFP91 ATF7 NCOA1 REST ZNF592 MBD2 SMARCA4 IL18BP LRTOMT RNF121 LOC100133315 LAMTOR1 ANAPC15 FAM86C1 GC11P072002
GH11J072037 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 11.8 -39.5 -39482 6.7 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B NEUROD1 SIN3A FEZF1 LRTOMT NUMA1 FAM86C1 LOC100128494 LAMTOR1 ANAPC15 FOLR3 IL18BP RNF121 PHOX2A
GH11J071942 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.2 -133.8 -133824 7.3 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 FOS REST KAT8 MEF2D LOC100128494 NUMA1 IL18BP LRTOMT FAM86C1 PIR62264 RNF121
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRTOMT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LRTOMT gene promoter:
  • STAT3
  • Sox5
  • CUTL1
  • FOXD1

Genomic Locations for LRTOMT Gene

Genomic Locations for LRTOMT Gene
chr11:72,080,331-72,110,782
(GRCh38/hg38)
Size:
30,452 bases
Orientation:
Plus strand
chr11:71,791,377-71,821,828
(GRCh37/hg19)
Size:
30,452 bases
Orientation:
Plus strand

Genomic View for LRTOMT Gene

Genes around LRTOMT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRTOMT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRTOMT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRTOMT Gene

Proteins for LRTOMT Gene

  • Protein details for LRTOMT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96E66-LRC51_HUMAN
    Recommended name:
    Leucine-rich repeat-containing protein 51
    Protein Accession:
    Q96E66
    Secondary Accessions:
    • B2R7X1
    • B6CZ35
    • B6CZ36
    • B6CZ37
    • B6CZ38
    • B6CZ39
    • B7Z5I4
    • B2R7X1
    • B6CZ35
    • B6CZ36
    • B6CZ37
    • B6CZ38
    • B6CZ39
    • B7Z5I4

    Protein attributes for LRTOMT Gene

    Size:
    192 amino acids
    Molecular mass:
    22206 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • In primates, this protein is produced by a bicistronic gene which also produces the TOMT protein from an overlapping reading frame. In rodents, these proteins are produced by 2 separate adjacent genes which together are orthologous to the single primate gene.
    • In primates, this protein is produced by a bicistronic gene which also produces the TOMT protein from an overlapping reading frame. In rodents, these proteins are produced by 2 separate adjacent genes which together are orthologous to the single primate gene.

    Alternative splice isoforms for LRTOMT Gene

  • Protein details for LRTOMT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WZ04-TOMT_HUMAN
    Recommended name:
    Transmembrane O-methyltransferase
    Protein Accession:
    Q8WZ04
    Secondary Accessions:
    • B7Z816

    Protein attributes for LRTOMT Gene

    Size:
    291 amino acids
    Molecular mass:
    32155 Da
    Quaternary structure:
    • Interacts with LHFPL5, PCDH15, TMC1, TMC2 and TMIE. Interacts directly with TMC1. The interaction of TOMT with TMC1 and TMC2 is required for the transportation of TMC1/2 into the stereocilia of hair cells.
    Miscellaneous:
    • In primates, this protein is produced by a bicistronic gene which also produces the LRRC51 protein from an overlapping reading frame. In rodents, these proteins are produced by 2 separate adjacent genes which together are orthologous to the single primate gene.
    SequenceCaution:
    • Sequence=AAL55772.1; Type=Frameshift; Positions=91; Evidence={ECO:0000305};

    Alternative splice isoforms for LRTOMT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRTOMT Gene

Post-translational modifications for LRTOMT Gene

No data available for DME Specific Peptides for LRTOMT Gene

Domains & Families for LRTOMT Gene

Gene Families for LRTOMT Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for LRTOMT Gene

Suggested Antigen Peptide Sequences for LRTOMT Gene

Graphical View of Domain Structure for InterPro Entry

Q8WZ04

UniProtKB/Swiss-Prot:

TOMT_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O-methyltransferase family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O-methyltransferase family.
genes like me logo Genes that share domains with LRTOMT: view

Function for LRTOMT Gene

Molecular function for LRTOMT Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function (PubMed:18794526). Component of the cochlear hair cells mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol.

Enzyme Numbers (IUBMB) for LRTOMT Gene

Gene Ontology (GO) - Molecular Function for LRTOMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
GO:0008171 O-methyltransferase activity IBA,IEA --
GO:0016206 catechol O-methyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0102084 L-dopa O-methyltransferase activity IEA --
genes like me logo Genes that share ontologies with LRTOMT: view
genes like me logo Genes that share phenotypes with LRTOMT: view

Human Phenotype Ontology for LRTOMT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for LRTOMT

CRISPR Products

miRNA for LRTOMT Gene

miRTarBase miRNAs that target LRTOMT

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRTOMT

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for LRTOMT Gene

Localization for LRTOMT Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRTOMT Gene

Cytoplasm.
Isoform 1: Membrane; Single-pass membrane protein.
Isoform 2: Cytoplasm. Endoplasmic reticulum. Note=Localized to the cell body of the cochlear hair cells, but is not present in the stereocilia (PubMed:28504928). Present but not restricted to the apical cistern, Hensens body and the subsurface cistern (By similarity). {ECO:0000250 UniProtKB:A1Y9I9, ECO:0000269 PubMed:28504928}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRTOMT gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LRTOMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LRTOMT: view

Pathways & Interactions for LRTOMT Gene

genes like me logo Genes that share pathways with LRTOMT: view

Pathways by source for LRTOMT Gene

Interacting Proteins for LRTOMT Gene

Gene Ontology (GO) - Biological Process for LRTOMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006584 catecholamine metabolic process IEA --
GO:0007605 sensory perception of sound ISS 18794526
GO:0032259 methylation IEA --
GO:0032502 developmental process IBA --
GO:0042135 neurotransmitter catabolic process IEA --
genes like me logo Genes that share ontologies with LRTOMT: view

No data available for SIGNOR curated interactions for LRTOMT Gene

Drugs & Compounds for LRTOMT Gene

(3) Drugs for LRTOMT Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guaiacol Approved Pharma 0
Pyrocatechol Experimental Pharma 0
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for LRTOMT Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with LRTOMT: view

Transcripts for LRTOMT Gene

mRNA/cDNA for LRTOMT Gene

Unigene Clusters for LRTOMT Gene

Leucine rich transmembrane and 0-methyltransferase domain containing:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRTOMT

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRTOMT Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c ^ 10
SP1: - - - -
SP2: - -
SP3: - - - - -
SP4: - - -
SP5:
SP6: -
SP7: - - - - - -
SP8: - - - - - -
SP9: - -
SP10: - - - - - - - - -

Relevant External Links for LRTOMT Gene

GeneLoc Exon Structure for
LRTOMT
ECgene alternative splicing isoforms for
LRTOMT

Expression for LRTOMT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LRTOMT Gene

mRNA differential expression in normal tissues according to GTEx for LRTOMT Gene

This gene is overexpressed in Testis (x7.2).

Protein differential expression in normal tissues from HIPED for LRTOMT Gene

This gene is overexpressed in Fetal Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LRTOMT Gene



Protein tissue co-expression partners for LRTOMT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LRTOMT Gene:

LRTOMT

SOURCE GeneReport for Unigene cluster for LRTOMT Gene:

Hs.317243

Evidence on tissue expression from TISSUES for LRTOMT Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LRTOMT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with LRTOMT: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for LRTOMT Gene

Orthologs for LRTOMT Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRTOMT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRTOMT 33
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia LRTOMT 34
  • 96 (a)
OneToOne
TOMT 33
  • 89.89 (n)
mouse
(Mus musculus)
Mammalia Tomt 16 34 33
  • 86.56 (n)
rat
(Rattus norvegicus)
Mammalia Tomt 33
  • 85.66 (n)
dog
(Canis familiaris)
Mammalia LRTOMT 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRTOMT 34
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRTOMT 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490284 33
  • 63.4 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15885 33
zebrafish
(Danio rerio)
Actinopterygii comtb 34
  • 33 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6621 34
  • 22 (a)
OneToOne
Species where no ortholog for LRTOMT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LRTOMT Gene

ENSEMBL:
Gene Tree for LRTOMT (if available)
TreeFam:
Gene Tree for LRTOMT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRTOMT: view image

Paralogs for LRTOMT Gene

Paralogs for LRTOMT Gene

(46) SIMAP similar genes for LRTOMT Gene using alignment to 10 proteins:

  • LRC51_HUMAN
  • TOMT_HUMAN
  • C9JDG7_HUMAN
  • F5GYI0_HUMAN
  • F5H0M6_HUMAN
  • F5H614_HUMAN
  • F5H6F7_HUMAN
  • F5H6K5_HUMAN
  • F8WBA5_HUMAN
  • L8E8S0_HUMAN
genes like me logo Genes that share paralogs with LRTOMT: view

Variants for LRTOMT Gene

Sequence variations from dbSNP and Humsavar for LRTOMT Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1025292179 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 72,080,863(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1025400026 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 72,080,653(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant
rs1025935979 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 72,108,829(+) T/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs111537544 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 72,080,605(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant
rs113912971 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 72,109,802(+) T/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LRTOMT Gene

Variant ID Type Subtype PubMed ID
nsv384 CNV insertion 18451855
nsv428262 CNV gain+loss 18775914
nsv825989 CNV loss 20364138

Variation tolerance for LRTOMT Gene

Gene Damage Index Score: 1.98; 36.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRTOMT Gene

Human Gene Mutation Database (HGMD)
LRTOMT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRTOMT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRTOMT Gene

Disorders for LRTOMT Gene

MalaCards: The human disease database

(6) MalaCards diseases for LRTOMT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 63
  • dfnb63
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
autosomal recessive nonsyndromic deafness
  • deafness, autosomal recessive, nonsyndromic )
deafness, autosomal recessive 67
  • dfnb67
deafness, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TOMT_HUMAN
  • Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:18794526, ECO:0000269 PubMed:18953341, ECO:0000269 PubMed:28281779}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LRTOMT

genes like me logo Genes that share disorders with LRTOMT: view

No data available for Genatlas for LRTOMT Gene

Publications for LRTOMT Gene

  1. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. (PMID: 18953341) Ahmed ZM … Kremer H (Nature genetics 2008) 2 3 4 58
  2. A catechol-O-methyltransferase that is essential for auditory function in mice and humans. (PMID: 18794526) Du X … Beutler B (Proceedings of the National Academy of Sciences of the United States of America 2008) 2 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The murine catecholamine methyltransferase mTOMT is essential for mechanotransduction by cochlear hair cells. (PMID: 28504928) Cunningham CL … Müller U (eLife 2017) 4 58
  5. Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. (PMID: 28281779) Wang R … Zhang X (Genetic testing and molecular biomarkers 2017) 4 58

Products for LRTOMT Gene

Sources for LRTOMT Gene

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