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NT5C3A is 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.
Gene Name: | 5'-nucleotidase, cytosolic IIIA |
Synonyms: | NT5C3A, 5-nucleotidase, cytosolic III, 5'-nucleotidase, cytosolic III, CN-III, Cytosolic 5-nucleotidase 3, p5'N-1, p36, PN-I, UMPH1, UMPH, p5N-1, p5N1, Cytosolic 5-nucleotidase III, NT5C3, PSN1, Pyrimidine 5-nucleotidase 1 |
Target Sequences: | NM_016489 NP_057573.2 Q9H0P0 |
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