Gene Facts External Data Attribution

HGNC Symbol
LRTOMT (HGNC:25033) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
leucine rich transmembrane and O-methyltransferase domain containing
Gene type
other
Locus type
readthrough
Previous symbols
LRRC51, DFNB63
Alias symbols
COMT2, CFAP111, LRTOMT1, LRTOMT2
%HI
45.14(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.2(Read more about gnomAD LOEUF score)
Cytoband
11q13.4
Genomic Coordinates
GRCh37/hg19: chr11:71791896-71821828 NCBI Ensembl UCSC
GRCh38/hg38: chr11:72080850-72110782 NCBI Ensembl UCSC
Function
Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function (PubMed:18794526). Component of the cochlear hair cell's mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-30881
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)