LRTOMT leucine rich transmembrane and O-methyltransferase domain containing

Gene ID: 220074, updated on 5-Mar-2024
Gene type: protein coding
Also known as: TOMT; DFNB63; LRRC51; CFAP111; LRRC51-TOMT

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive nonsyndromic hearing loss 63 MedGen: C1969621OMIM: 611451GeneReviews: Genetic Hearing Loss Overview	See labs

Genomic context

Location:: 11q13.4

Sequence:: Chromosome: 11; NC_000011.10 (72080850..72110782)

Total number of exons:: 9

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for LRTOMT variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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