{"symbol":"NT5C3A","synonyms":["UMPH","HUMP1","POMP","NT5C3","PSN1","CN-III","UMPH1","P5N-1","P5\u0027N-1"],"name":"5\u0027-nucleotidase, cytosolic IIIA","description":"This gene encodes a member of the 5\u0027-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5\u0027-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5\u0027 nucleotidase and catalyzes the dephosphorylation of pyrimidine 5\u0027 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. [provided by RefSeq, Mar 2012]","ncbiEntrezGeneId":51251,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/51251","proteins":[{"symbol":"5NT3A_HUMAN","href":"/api/1.0/protein/5NT3A_HUMAN"}],"hgncRootFamilies":[{"name":"Phosphatases","href":"/api/1.0/gene_family/Phosphatases"}]}