Aliases for LRTOMT Gene
External Ids for LRTOMT Gene
Previous HGNC Symbols for LRTOMT Gene
Previous GeneCards Identifiers for LRTOMT Gene
This gene includes two transcript forms. The short form has one open reading frame (ORF), which encodes the leucine-rich repeats (LRR)-containing protein of unknown function. This protein is called LRTOMT1 or LRRC51. The long form has two alternative ORFs; the upstream ORF has the same translation start codon as used in the short form and the resulting transcript is a candidate for nonsense-mediated decay, and the downstream ORF encodes a different protein, which is a transmembrane catechol-O-methyltransferase and is called LRTOMT2, TOMT or COMT2. The COMT2 is essential for auditory and vestibular function. Defects in the COMT2 can cause nonsyndromic deafness. Alternatively spliced transcript variants from each transcript form have been found for this gene. [provided by RefSeq, Sep 2012]
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 Dfnb63 Nonsyndromic Hearing Loss And Deafness. Among its related pathways are noradrenaline and adrenaline degradation. GO annotations related to this gene include O-methyltransferase activity and catechol O-methyltransferase activity. An important paralog of this gene is COMT.
UniProtKB/Swiss-Prot for LRTOMT Gene
Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function.