LRTOMT
Identifiers
AliasesLRTOMT, CFAP111, DFNB63, LRRC51, leucine rich transmembrane and O-methyltransferase domain containing, TOMT, LRRC51-TOMT
External IDsOMIM: 612414 MGI: 3769724 HomoloGene: 19664 GeneCards: LRTOMT
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001145308
NM_001145309
NM_001145310

NM_001081679
NM_001282088

RefSeq (protein)

NP_001075148
NP_001269017

Location (UCSC)Chr 11: 72.08 – 72.11 MbChr 7: 101.55 – 101.56 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Leucine rich transmembrane and O-methyltransferase domain containing is a protein that in humans is encoded by the LRTOMT gene.[5]

Clinical significance

Mutations in LRTOMT are associated to non syndromic deafness.[6]

Function

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.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000284922 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000078630 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Leucine rich transmembrane and O-methyltransferase domain containing".
  6. ^ Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, Chargui M, Kefi R, Jonard L, Dorboz I, Hardelin JP, Salah SB, Levilliers J, Weil D, McElreavey K, Boespflug OT, Besbes G, Abdelhak S, Petit C (2014). "Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness". PLOS ONE. 9 (6): e99797. Bibcode:2014PLoSO...999797R. doi:10.1371/journal.pone.0099797. PMC 4057390. PMID 24926664.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.