人 GNMT 抗体对
01AB01706
Glycine N-methyltransferase (GNMT) is a cytosolic enzyme predominantly expressed in the liver that catalyzes the methylation of glycine using S-adenosylmethionine (SAM) as a methyl donor to produce N-methylglycine (sarcosine) and S-adenosylhomocysteine (SAH), functioning as a homotetramer with a molecular mass of approximately 34.9 kDa. GNMT plays a crucial regulatory role in maintaining the SAM/SAH ratio, which is essential for SAM-dependent methyltransfer reactions, and participates in transmethylation, transsulfuration, one-carbon metabolism, energy metabolism, and DNA methylation pathways while also contributing to hepatic detoxification processes. GNMT deficiency is a very rare autosomal recessive metabolic disorder caused by mutations in the GNMT gene on chromosome 6p21, characterized by persistent hypermethioninemia with elevated blood methionine levels, mild hepatomegaly, and chronic elevation of transaminases without overt liver disease, with neurological complications potentially occurring when methionine levels exceed 800 μmol/L. Additionally, dysregulation of GNMT expression has been associated with increased risk of hepatocellular carcinoma and prostate cancer.
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技术参数
- 靶点基因名
- GNMT
- 蛋白别名
- glycine N-methyltransferase; GNMT
- UniProt
- Q14749
- 物种
- Human
产品详情
- 靶点名称
- GNMT
- 蛋白名称
- glycine N-methyltransferase
- 蛋白别名
- Glycine N-methyltransferase
- 靶点基因名
- GNMT
- UniProt
- Q14749
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Glycine N-methyltransferase (GNMT) is a cytosolic enzyme predominantly expressed in the liver that catalyzes the methylation of glycine using S-adenosylmethionine (SAM) as a methyl donor to produce N-methylglycine (sarcosine) and S-adenosylhomocysteine (SAH), functioning as a homotetramer with a molecular mass of approximately 34.9 kDa. GNMT plays a crucial regulatory role in maintaining the SAM/SAH ratio, which is essential for SAM-dependent methyltransfer reactions, and participates in transmethylation, transsulfuration, one-carbon metabolism, energy metabolism, and DNA methylation pathways while also contributing to hepatic detoxification processes. GNMT deficiency is a very rare autosomal recessive metabolic disorder caused by mutations in the GNMT gene on chromosome 6p21, characterized by persistent hypermethioninemia with elevated blood methionine levels, mild hepatomegaly, and chronic elevation of transaminases without overt liver disease, with neurological complications potentially occurring when methionine levels exceed 800 μmol/L. Additionally, dysregulation of GNMT expression has been associated with increased risk of hepatocellular carcinoma and prostate cancer.