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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| NT5C3A-20-RE | 20 (40 μL) | 200 μL |  |
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| NT5C3A-20-OR | 20 (40 μL) | 200 μL |  |
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| NT5C3A-20-GO | 20 (40 μL) | 200 μL |  |
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| NT5C3A-20-GR | 20 (40 μL) | 200 μL |  |
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| NT5C3A-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : NT5C3A
Gene Name : 5'-nucleotidase, cytosolic IIIA
Chromosome : CHR 7: 330,627,96-330,141,12
Locus : 7p14.3
Alt. Genes : RAD50
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