Aliases for LRTOMT Gene
External Ids for LRTOMT Gene
Previous HGNC Symbols for LRTOMT Gene
Previous GeneCards Identifiers 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 Circadian entrainment 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 Summary 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 cell's 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).