LRTOMT gene

leucine rich transmembrane and O-methyltransferase domain containing

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt: TOMT_HUMAN:

Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 63

From UniProt: TOMT_HUMAN:

Deafness, autosomal recessive, 63 (DFNB63): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:611451]

Cytogenetic Location: 11q13.4, which is the long (q) arm of chromosome 11 at position 13.4

Molecular Location: base pairs 72,079,982 to 72,110,782 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q13.4, which is the long (q) arm of chromosome 11 at position 13.4
  • CFAP111
  • DFNB63
  • LRRC51