LRTOMT - leucine rich transmembrane and O-methyltransferase domain containing Gene
Also Known as TOMT; DFNB63; LRRC51; CFAP111; LRRC51-TOMT
Species: Homo sapiens
About LRTOMT
This gene has 6 transcripts (splice variants) and is associated with 1 phenotype. Broad expression in testis (RPKM 6.2), thyroid (RPKM 2.2) and 25 other tissues.
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]
LRTOMT Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001145308.5 | NP_001138780.1 | transmembrane O-methyltransferase isoform LRTOMT2a |
| NM_001145309.4 | NP_001138781.1 | transmembrane O-methyltransferase isoform LRTOMT2a |
| NM_001145310.4 | NP_001138782.1 | transmembrane O-methyltransferase isoform LRTOMT2b |
LRTOMT Protein Structure
LRR_9: Leucine-rich repeat (102 - 173)
- 0
- 100
- 192 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transmembrane O-methyltransferase |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deafness, Autosomal Recessive 63 |
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| Rare Genetic Deafness |
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| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
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| Deafness, Autosomal Recessive 35 |
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| Deafness, Autosomal Recessive 33 |
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| Deafness, Autosomal Recessive 67 |
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| Deafness, Autosomal Recessive 21 |
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| Deafness, Autosomal Recessive 6 |
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| Deafness, Autosomal Recessive 93 |
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| Mannosidosis, Beta A, Lysosomal |
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| Autosomal Recessive Nonsyndromic Deafness 3 |
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| Deafness, Autosomal Recessive 2 |
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| Autosomal Recessive Nonsyndromic Deafness |
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| Deafness, Autosomal Recessive 12 |
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| Autosomal Dominant Nonsyndromic Deafness |
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| Usher Syndrome |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | LRTOMT | RGD | RGD:1561509 |
| Others | LRTOMT | NCBI |