LRTOMT Gene
Leucine Rich Transmembrane And O-Methyltransferase Domain Containing
Gene Information Card
| Symbol | LRTOMT |
|---|---|
| Full Name | Leucine Rich Transmembrane And O-Methyltransferase Domain Containing |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 220074 ncbi.nlm.nih.gov/gene/220074 |
| Ensembl ID | ENSG00000184164 |
| UniProt ID | Q8N0U7 |
| OMIM ID | 612414 |
| HGNC ID | 26979 |
| Aliases | DFNB63, LRRC51, FLJ32743 |
Description
The LRTOMT gene encodes a protein that contains leucine-rich repeats and an O-methyltransferase domain. It is involved in auditory function, and mutations in this gene are associated with autosomal recessive non-syndromic hearing loss (DFNB63). The protein may play a role in the development or maintenance of cochlear hair cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive non-syndromic hearing loss 63 (DFNB63) | Loss-of-function mutations in LRTOMT disrupt normal cochlear development or function, leading to sensorineural hearing loss. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | Not available | High (based on RNA-seq in mouse models) |
| Testis | 0.3 | Low |
| Brain | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.2 | Low expression |
| K562 | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.242G>A (p.Trp81*) | Nonsense | Rare | Loss of function; associated with hearing loss |
| c.346C>T (p.Arg116*) | Nonsense | Rare | Loss of function; associated with hearing loss |
| c.494G>A (p.Trp165*) | Nonsense | Rare | Loss of function; associated with hearing loss |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in LRTOMT lead to truncated or absent protein, causing autosomal recessive hearing loss DFNB63.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • methyltransferase activity (GO:0008168) | • protein binding (GO:0005515) |
| • sensory perception of sound (GO:0007605) | • plasma membrane (GO:0005886) |
Pathways
• Auditory transduction pathway (inferred)
Protein Summary
The LRTOMT protein is a transmembrane protein with leucine-rich repeats and an O-methyltransferase domain. It is predicted to localize to the plasma membrane and may be involved in methylation processes essential for cochlear hair cell function. Its exact biochemical role remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRTOMT Knockout HEK293 Cell Line | EDJ-KQ52151 | Human | 220074 | Details Get a Quote |
| LRTOMT Knockout HeLa Cell Line | EDJ-KQ59133 | Human | 220074 | Details Get a Quote |
| LRTOMT Knockout A-549 Cell Line | EDJ-KQ67607 | Human | 220074 | Details Get a Quote |
| LRTOMT Knockout HCT 116 Cell Line | EDJ-KQ75995 | Human | 220074 | Details Get a Quote |
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