LRTOMT


Description

The LRTOMT (leucine rich transmembrane and O-methyltransferase domain containing) is a protein-coding gene located on chromosome 11.

LRTOMT, a protein encoded by the LRTOMT gene, is crucial for auditory function. It is a fusion gene formed from the combination of LRRC51 and TOMT genes, resulting in two proteins, LRTOMT1 and LRTOMT2. LRTOMT1 contains leucine-rich repeats and is encoded by exons 3 to 6, while LRTOMT2, also known as TOMT or COMT2, is encoded by exons 5 to 10 and possesses a predicted methyltransferase domain. Mutations in LRTOMT are linked to the DFNB63 form of autosomal recessive nonsyndromic hearing loss. LRTOMT is involved in cochlear hair cell function and is associated with components of the mechanoelectrical transduction (MET) channel, including TMC1. While the exact mechanism of LRTOMT's contribution to MET currents and auditory function is unknown, the methyltransferase domain is likely not involved.

LRTOMT is also known as CFAP111, DFNB63, LRRC51, LRRC51-TOMT, TOMT.

Associated Diseases


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