NT5C3A Chromosome 7
5'-nucleotidase, cytosolic IIIA
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What This Gene Does
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 Info
Gene Group
5'-nucleotidases
Locus Type
gene with protein product
Location
7p14.3
Ensembl
ENSG00000122643
Associated Conditions (1)
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Key Variants
RS1583884979
Conflicting classifications of pathogenicity
Health Risk
RS769817076
Conflicting classifications of pathogenicity
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Health Risk
RS2127996432
Likely pathogenic
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Health Risk
RS2534678614
Likely pathogenic
Health Risk
RS104894026
Pathogenic
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Health Risk
RS104894027
Pathogenic
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Health Risk
RS104894028
Pathogenic
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Health Risk
RS104894029
Pathogenic
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Health Risk
RS1785613853
Pathogenic
Health Risk
RS2534679858
Pathogenic
Health Risk
RS2534692311
Pathogenic
Health Risk
RS397518435
Pathogenic
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1583884979 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769817076 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
| RS2127996432 | Health Risk | Likely pathogenic | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
| RS2534678614 | Health Risk | Likely pathogenic | — |
| RS104894026 | Health Risk | Pathogenic | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
| RS104894027 | Health Risk | Pathogenic | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
| RS104894028 | Health Risk | Pathogenic | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
| RS104894029 | Health Risk | Pathogenic | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
| RS1785613853 | Health Risk | Pathogenic | — |
| RS2534679858 | Health Risk | Pathogenic | — |
| RS2534692311 | Health Risk | Pathogenic | — |
| RS397518435 | Health Risk | Pathogenic | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
| RS397518436 | Health Risk | Pathogenic | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
| RS397518437 | Health Risk | Pathogenic | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
| RS397518438 | Health Risk | Pathogenic | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
| RS753346459 | Health Risk | Pathogenic | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
| RS925502732 | Health Risk | Pathogenic | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
| RS104894025 | Health Risk | Pathogenic/Likely pathogenic | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |