LRTOMT

Chr 11q13.4

leucine rich transmembrane and O-methyltransferase domain containing

Aliases:: COMT2, CFAP111, LRTOMT1, LRTOMT2

OMIM: 612414 ↗NCBI: 220074 ↗Ensembl ↗

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Predicted protein structure

No predicted 3D structure for LRTOMT. Non-coding genes and pseudogenes typically have no protein product.

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive nonsyndromic hearing loss 63
0.42
hearing loss, autosomal recessive
0.38
Rare genetic deafness
0.27
retinitis pigmentosa
0.08
Cone rod dystrophy
0.08
Progressive cone dystrophy
0.08
Familial exudative vitreoretinopathy
0.07
angioma serpiginosum
0.07
Leber congenital amaurosis
0.07
achromatopsia
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transmembrane O-methyltransferase

Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function (PubMed:18794526). Component of the cochlear hair cell's mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity (By similarity)