TOMT - transmembrane O-methyltransferase Gene

Also Known as COMT2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 120356740

About TOMT

This gene has 1 transcript (splice variant), 186 orthologues and 2 paralogues.

Summary

This gene encodes a catechol-O-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to a hydroxyl group of catechols and is essential for auditory and vestibular function. Mutations in this gene have been associated with nonsyndromic deafness. Readthrough transcription is observed across this gene and the adjacent leucine-rich repeat containing 51 gene. A third locus (GeneID:220074) is defined to represent the readthrough transcripts. [provided by RefSeq, Feb 2021]

TOMT Products (1)

mRNA	Protein	Name
NM_001393500.2	NP_001380429.1	transmembrane O-methyltransferase

Protein Preferred Names	Protein Names
transmembrane O-methyltransferase

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
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07848	LRTOMT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14888	TOMT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TOMT	MGD	MGI:3769724