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C190603Level 6

NT5C3A wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human NT5C3A wild-type allele is located in the vicinity of 7p14.3 and is approximately 49 kb in length. This allele, which encodes cytosolic 5'-nucleotidase 3A protein, plays a role in the metabolism of pyrimidine 5' monophosphates. Loss of function mutations in the gene are associated with hemolytic anemia due to pyrimidine 5'-nucleotidase deficiency.

**Synonyms:** - 5'-Nucleotidase, Cytosolic III Gene - 5'-Nucleotidase, Cytosolic IIIA wt Allele - 5-Prime-Nucleotidase, Cytosolic IIIA Gene - Lupin Gene - NT5C3 - Nucleotidase, 5-Prime, Cytosolic III Gene - P5'N-1 - P5N-1 - P5N1 - PN-I - POMP - PSN1 - Pyrimidine 5-Prime-Nucleotidase 1 Gene - UMPH - UMPH1 - Uridine 5-Prime Monophosphate Hydrolase 1 Gene - cN-III - hUMP1 - p36

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