LRTOMT - leucine rich transmembrane and O-methyltransferase domain containing Gene

Homo sapiens

Also known as TOMT; DFNB63; LRRC51; CFAP111; LRRC51-TOMT

Gene ID: 220074 | Gene type: protein coding

About LRTOMT

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:72,080,850-72,110,782 (from NCBI)

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

0
100
192 a.a.

Protein Preferred Names

Protein Names

transmembrane O-methyltransferase

leucine rich transmembrane and 0-methyltransferase domain containing

Related Diseases

Diseases

Alias

Deafness, Autosomal Recessive 63

DFNB63	Autosomal Recessive Nonsyndromic Deafness 63
Autosomal Recessive Deafness 63	Deafness, Autosomal Recessive, 63
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63
Deafness, Autosomal Recessive, Type 63

Rare Genetic Deafness

Rare Genetic Hearing Loss

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb	Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Deafness, Autosomal Recessive 35

DFNB35	Autosomal Recessive Nonsyndromic Deafness 35
Autosomal Recessive Deafness 35	Deafness, Autosomal Recessive, 35
Deafness, Autosomal Recessive, Type 35

Deafness, Autosomal Recessive 33

DFNB33	Autosomal Recessive Nonsyndromic Deafness 33
Autosomal Recessive Deafness 33

Deafness, Autosomal Recessive 67

DFNB67	Autosomal Recessive Nonsyndromic Deafness 67
Autosomal Recessive Deafness 67	Deafness, Autosomal Recessive, 67
Deafness, Autosomal Recessive, Type 67

Deafness, Autosomal Recessive 21

DFNB21	Autosomal Recessive Nonsyndromic Deafness 21
Autosomal Recessive Deafness 21	Deafness, Autosomal Recessive, 21
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 21	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 21
Deafness, Autosomal Recessive, Type 21

Deafness, Autosomal Recessive 6

DFNB6	Neurosensory Nonsyndromic Recessive Deafness 6
Nsrd6	Autosomal Recessive Nonsyndromic Deafness 6
Autosomal Recessive Deafness 6	Deafness, Autosomal Recessive, 6
Deafness Neurosensory Autosomal Recessive 6	Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 6
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 6	Deafness, Autosomal Recessive, Type 6

Deafness, Autosomal Recessive 93

DFNB93	Autosomal Recessive Nonsyndromic Deafness 93
Autosomal Recessive Deafness 93	Deafness, Autosomal Recessive, 93
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 93	Deafness, Autosomal Recessive, Type 93

Mannosidosis, Beta A, Lysosomal

Beta-Mannosidosis	Lysosomal Beta-Mannosidase Deficiency
Beta-Mannosidase Deficiency	Beta-D-Mannosidosis
Mannosidosis, Beta	MANSB
Lysosomal Beta A Mannosidosis

Autosomal Recessive Nonsyndromic Deafness 3

Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3	Dfnb3
Nrsd3	Deafness, Autosomal Recessive 3

Deafness, Autosomal Recessive 2

DFNB2	Neurosensory Nonsyndromic Recessive Deafness 2
Nsrd2	Autosomal Recessive Nonsyndromic Deafness 2
Deafness, Autosomal Recessive, Type 2	Autosomal Recessive Deafness 2
Deafness, Autosomal Recessive, 2	Deafness Neurosensory Autosomal Recessive 2
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2
Deafness, Autosomal Recessive 2, Neurosensory

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Deafness, Autosomal Recessive 12

DFNB12	Deafness, Autosomal Recessive 12, Modifier Of
Autosomal Recessive Nonsyndromic Deafness 12	Autosomal Recessive Deafness 12
Deafness, Autosomal Recessive, 12	Congenital Neurosensory Deafness Autosomal Recessive 12
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12
Deafness, Autosomal Recessive, Type 12

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07848	LRTOMT Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	LRTOMT	RGD	RGD:1561509

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