检测编号：NS0480121

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].