LRTOMT
Sign in to saveAlso known as CFAP111, DFNB63, LRRC51, leucine rich transmembrane and O-methyltransferase domain containing, TOMT, LRRC51-TOMT
Leucine rich transmembrane and O-methyltransferase domain containing is a protein that is encoded by the LRTOMT gene in humans. This locus represents naturally occurring read-through transcript between the neighboring LRRC51 (leucine-rich repeat containing 51) and TOMT (transmembrane O-methyltransferase) genes on chromosome 11. Mutations in LRTOMT are associated with the DFNB63 form of autosomal recessive nonsyndromic hearing loss.
Gene data
LRTOMT- Name
- leucine rich transmembrane and O-methyltransferase domain containing
- Type
- protein-coding
- Position
- 72,080,331–72,110,782 (+)
- Aliases
- CFAP111, DFNB63, LRRC51, LRRC51-TOMT
- Ensembl
- ENSG00000284922
- RefSeq RNA
- NM_001145308.5, NM_001145309.4, NM_001145310.4, NR_073187.2, NR_073188.2
- RefSeq protein
- NP_001138780.1, NP_001138781.1, NP_001138782.1
This locus represents naturally occurring readthrough transcription between the neighboring LRRC51 (leucine-rich repeat containing 51) and TOMT (transmembrane O-methyltransferase) genes on chromosome 11. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. Multiple reports implicate mutations in this gene in nonsyndromic deafness.[provided by RefSeq, Feb 2021].
Pathways
via MyGene.info
Gene · Ensembl
leucine rich transmembrane and O-methyltransferase domain containing
- Symbol
- LRTOMT
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 11:72,080,331-72,110,782
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 19664
- exact match
- identifiers.org/ncbigene/220074
- found in taxon
- Homo sapiens
- cytogenetic location
- 11q13.4
- chromosome
- human chromosome 11
- genomic start
- 71791382
- genomic end
- 71821828
Sources (6)
via Wikidata · CC0
~3 min read
Encyclopedic overview
5 sectionsContents
- Gene
- Function
- Clinical significance
- References
- Further reading
Leucine rich transmembrane and O-methyltransferase domain containing is a protein that is encoded by the LRTOMT gene in humans. This locus represents naturally occurring read-through transcript between the neighboring LRRC51 (leucine-rich repeat containing 51) and TOMT (transmembrane O-methyltransferase) genes on chromosome 11. Mutations in LRTOMT are associated with the DFNB63 form of autosomal recessive nonsyndromic hearing loss.
== Gene ==
Excerpted from Wikipedia’s “LRTOMT” article, available under the CC BY-SA 4.0 licence.