Hypermethioninemia(高甲硫氨酸血症)

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检测编号:NS0480122


基因 GNMT 与疾病

基因名称基因全名基因位置外显子个数 CDS长度
GNMT glycine N-methyltransferase 6p12 6 约1068 bp
基因摘要 The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016].