9 sources retrieved · Most recent: April 2026 · Index updated 16 days ago
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10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
auditory receptor cell developmentsensory perception of soundcatecholamine catabolic processcatechol O-methyltransferase activityautosomal recessive nonsyndromic hearing loss 63genetic disorderRare genetic deafnessdeafness
TOMT (transmembrane O-methyltransferase) is a membrane-associated protein involved in catecholamine metabolism and auditory function. The gene encodes a putative methyltransferase with catechol O-methyltransferase activity 1, playing a role in dopamine catabolic processes. TOMT is part of the LRTOMT locus on chromosome 11.3-q13.4, where it evolved through gene fusion in primates 1. Mutations in LRTOMT, which encodes two alternative reading frame products including LRTOMT2 (a methyltransferase), cause nonsyndromic profound hearing loss at the DFNB63 locus 1. This establishes TOMT's critical role in auditory receptor cell development and sensory perception of sound. The protein localizes to the plasma membrane and participates in developmental processes related to hearing. While TOMT's specific enzymatic mechanisms in catecholamine metabolism remain incompletely characterized in the provided literature, its association with hereditary deafness indicates essential functions in inner ear physiology and auditory transduction. Clinical relevance centers on genetic hearing loss, representing an important target for understanding nonsyndromic deafness pathogenesis and potential therapeutic intervention in patients with LRTOMT mutations.
1
LRTOMT mutations cause nonsyndromic deafness (DFNB63), LRTOMT2 is a putative methyltransferase, and LRTOMT evolved from gene fusion in primates involving Tomt
PMID: 18953341⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
autosomal recessive nonsyndromic hearing loss 63Open Targets
genetic disorderOpen Targets
Rare genetic deafnessOpen Targets
hearing loss, autosomal recessiveOpen Targets
Hearing impairmentOpen Targets
age-related macular degenerationOpen Targets
X-linked retinal dysplasiaOpen Targets
Familial exudative vitreoretinopathyOpen Targets
attention deficit hyperactivity disorderOpen Targets
autism spectrum disorderOpen Targets
retinitis pigmentosaOpen Targets
Intellectual disability - hypotonia - spasticity - sleep disorderOpen Targets
severe early-childhood-onset retinal dystrophyOpen Targets
Stargardt diseaseOpen Targets
intellectual disability, autosomal dominant 50Open Targets
reticular dystrophy of the retinal pigment epitheliumOpen Targets
FRAXE intellectual disabilityOpen Targets
No pathogenic variants reported on ClinVar for this gene.
No tissue expression data available for this gene.