Aliases for NT5C3A Gene
External Ids for NT5C3A Gene
Previous Symbols for NT5C3A Gene
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. [provided by RefSeq, Mar 2012]
GeneCards Summary for NT5C3A Gene
NT5C3A (5'-Nucleotidase, Cytosolic IIIA) is a Protein Coding gene. Diseases associated with NT5C3A include hemolytic anemia due to pyrimidine 5 nucleotidase deficiency and anemia, hemolytic, due to umph1 deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include nucleotide binding and 5-nucleotidase activity. An important paralog of this gene is NT5C3B.
UniProtKB/Swiss-Prot for NT5C3A Gene
Can act both as nucleotidase and as phosphotransferase