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.
No tissue expression data available for this gene.