NT5C3 Antibody – Rabbit

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]

NT5C3A: Can act both as nucleotidase and as phosphotransferase. Defects in NT5C3 are the cause of P5N deficiency (P5ND); also called hemolytic anemia due to P5N deficiency or hemolytic anemia due to UMPH1 deficiency. P5ND is an autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stipplig and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. Belongs to the pyrimidine 5'-nucleotidase family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Nucleotide Metabolism - pyrimidine; Endoplasmic reticulum; Nucleotide Metabolism - purine; Phosphatase (non-protein); Cofactor and Vitamin Metabolism - nicotinate and nicotinamide; EC 3.1.3.5; Transferase

Chromosomal Location of Human Ortholog: 7p14.3

Cellular Component: mitochondrion; endoplasmic reticulum; cytoplasm; cytosol

Molecular Function: 5'-nucleotidase activity; 2'-phosphotransferase activity; magnesium ion binding; nucleotide binding

Biological Process: pyrimidine nucleoside catabolic process; pyrimidine base metabolic process; dephosphorylation; nucleobase, nucleoside and nucleotide metabolic process; nucleotide metabolic process; adenosine metabolic process; pyrimidine nucleoside metabolic process

Disease: Uridine 5-prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To