TOMT - transmembrane O-methyltransferase Gene

中文名称：跨膜 O-甲基转移酶

种属: Homo sapiens

同用名: COMT2

关于 TOMT

功能概要

该基因编码一种儿茶酚-O-甲基转移酶，该酶催化甲基从 S-腺苷-L-甲硫氨酸转移到儿茶酚的羟基，对听觉和前庭功能至关重要。该基因的突变与非综合征性耳聋有关。在该基因和相邻的含有 51 基因的富含亮氨酸重复序列中观察到通读转录。第三个基因座 (GeneID:220074) 被定义为代表通读转录本。[RefSeq 提供，2021 年 2 月]

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]