NT5C3A Knockout Cell Lysate

Description

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]