Protein Name 5'-nucleotidase, cytosolic IIIA
Organism Homo sapiens
Gene ID 51251
Gene Symbol

NT5C3A

UniProt Q9H0P0 (5NT3A_HUMAN), A0A024RA81 (A0A024RA81_HUMAN), A0A090N7U2 (A0A090N7U2_HUMAN)
Relationships Total Number of functionally related compound(s) : 228
Total Number of Articles : 206
Description

5'-nucleotidase, cytosolic IIIA

Gene Summary

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]

synonyms
  • cytosolic 5'-nucleotidase 3A
  • 5'-nucleotidase, cytosolic III
  • 7-methylguanosine phosphate-specific 5'-nucleotidase
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Properties