LRTOMT |
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)