DISEASES

Disease-gene associations mined from literature

Literature associating LRTOMT and autosomal recessive nonsyndromic deafness 67

LRTOMT [ENSP00000305742]

Leucine rich transmembrane and O-methyltransferase domain containing; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function. 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); Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O- methyltransferase family.

Synonyms:  LRTOMT,  A0A024R5L6,  B0AZV1,  C9JDG7,  F5GYI0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM