靶标:
NT5C3A
产品别名:
NT5C3; P5'N-1; P5N-1; PN-I; POMP; PSN1; UMPH; UMPH1; cN-III; hUMP1; p36; NT5C3A; 5'-nucleotidase, cytosolic IIIA; 5'-nucleotidase, cytosolic IIIA; cytosolic 5'-nucleotidase 3A; 5'-nucleotidase, cytosolic III; 7-methylguanosine phosphate-specific 5'-nucleotidase; cytosolic 5'-nucleotidase 3; lupin; pyrimidine 5'-nucleotidase 1; uridine 5'-monophosphate hydrolase 1; NT5C3蛋白;
背景信息:
This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4.