检测编号：NA0480003

基因 AHCY 与疾病

AHCY基因编码S-腺苷高半胱氨酸水解酶，参与蛋氨酸的代谢。该酶能将腺苷高半胱氨酸分解为腺苷和高半胱氨酸，该反应调控甲基化过程，对于许多细胞活动具有重要作用，进而影响一些DNA片段的表达已发现3种突变，突变位点分别在Y143C、W112X、A89V，这些突变会导致高甲硫胺酸血症

基因名称	基因全名	基因位置	外显子个数	CDS长度
AHCY	adenosylhomocysteinase	20q11.22	10	约2371 bp
基因摘要	S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009].

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].

基因 MAT1A 与疾病

MAT1A基因编码甲硫氨酸腺苷基转移酶，该酶有α和β两种亚型，存在与肝脏中。该酶参与蛋氨酸的代谢，将蛋氨酸分解为腺苷甲硫氨酸。蛋氨酸参与转甲基作用，对于许多细胞活动具有重要作用约有15种突变会导致高甲硫氨酸血症，大多基因突变使得构成该酶的氨基酸发生替换，导致蛋氨酸代谢效率降低；还有一些突变使得该基因未完全表达，产生无活性的酶。

基因名称	基因全名	基因位置	外显子个数	CDS长度
MAT1A	methionine adenosyltransferase I, alpha	10q22	9	约3404 bp
基因摘要	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008].