InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LRTOMT

Summary

InnateDB Protein

IDBP-380255.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LRTOMT

Protein Name

leucine rich transmembrane and 0-methyltransferase domain containing

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000392233

InnateDB Gene

IDBG-63145 (LRTOMT)

Protein Structure

UniProt Annotation

Function

Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function. {ECO:0000250UniProtKB:P21964, ECO:0000269PubMed:18794526}.

Subcellular Localization

Isoform 1: Membrane {ECO:0000305}; Single- pass membrane protein {ECO:0000305}.Isoform 2: Cytoplasm {ECO:0000250}.

Disease Associations

Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269PubMed:18794526, ECO:0000269PubMed:18953341}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0016206	catechol O-methyltransferase activity

Biological Process

GO:0007605	sensory perception of sound
GO:0032259	methylation
GO:0042135	neurotransmitter catabolic process
GO:0042424	catecholamine catabolic process
GO:0060117	auditory receptor cell development