BHMT2 - betaine--homocysteine S-methyltransferase 2 Gene

中文名称：甜菜碱-同型半胱氨酸 S-甲基转移酶 2

种属: Homo sapiens

关于 BHMT2

功能概要

同型半胱氨酸是一种含硫氨基酸，在甲基化反应中起着至关重要的作用。甲基从甜菜碱转移到同型半胱氨酸产生甲硫氨酸，甲硫氨酸将甲基提供给甲基化 DNA、蛋白质、脂质和其他细胞内代谢物。该基因编码的蛋白质是两种甲基转移酶之一，可催化甲基从甜菜碱转移到同型半胱氨酸。同型半胱氨酸代谢异常与从血管疾病到神经管先天性缺陷 (如脊柱裂) 等疾病有关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2010 年 5 月]

Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and Other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]