Leucine rich transmembrane and O-methyltransferase domain containing (LRTOMT)

Leucine rich transmembrane and O-methyltransferase domain containing (LRTOMT) is a human gene encoding a fusion protein consisting of two isoforms, LRTOMT1 (leucine-rich repeat containing protein) and LRTOMT2 (transmembrane O-methyltransferase, TOMT/COMT2)[1][2]. The gene is formed by a naturally occurring read-through transcript between the LRRC51 and TOMT genes on chromosome 11, resulting in overlapping open reading frames. TOMT (LRTOMT2) is critical for proper cochlear hair cell function as part of the mechanoelectrical transduction (MET) channel complex. Loss-of-function mutations in either TOMT or LRTOMT cause autosomal recessive nonsyndromic sensorineural hearing loss, especially DFNB63[1][2][6]. Although the protein contains a predicted methyltransferase domain, the primary biological defect in hearing loss appears unrelated to methyltransferase enzymatic activity. Beyond hearing, LRTOMT has limited evidence for involvement in other biological processes or diseases, with some experimental links to bone health in rodents[1]. No currently approved drugs or investigational compounds directly target LRTOMT.

Other names

CFAP111DFNB63LRRC51TOMTLRRC51-TOMTCOMT2LRTOMT1LRTOMT2transmembrane O-methyltransferaseleucine rich transmembrane and O-methyltransferase domain containing

Not applicable; LRTOMT is not a current drug target for approved or investigational therapies. Its *normal function* is to facilitate proper localization and function of the MET channel subunits in cochlear hair cells. Most disease arises from loss-of-function mutations rather than pharmacological modulation.