NT5C3A Antibody

1. Results from a study on gene expression variability markers in early-stage human embryos shows that NT5C3A is a putative expression variability marker for the 3-day, 8-cell embryo stage. PMID: 26288249
2. reduced expression of transketolase in pyrimidine 5'-nucleotidase deficient patients PMID: 27381654
3. Pyrimidine-5'-nucleotidase Campinas is a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5'-nucleotidase type I deficiency. PMID: 25153905
4. Results show that NT5C3 expression levels were significantly increased in patients with risk allele homozygote. PMID: 25000516
5. New missense homozygous mutation (Q270Ter) in the pyrimidine 5' nucleotidase type I-related gene in two Indian families with hereditary non-spherocytic hemolytic anemia. PMID: 23139015
6. All investigated mutant proteins display impaired catalytic properties and/or reduced thermostability, providing a rationale for the pathological effects of the mutations. PMID: 15604219
7. These data highlight hUMP1/POMP role in proteasome assembly and further strengthen the prospect of genetic manipulation of the proteasomal system. PMID: 17349762
8. 3 newly described missense mutations (c.187T>C, c.469G>C & c.740T>C) identified in patients with hemolytic anemia were characterized at protein level; the enzymes were altered in both thermal stability and catalytic efficiency PMID: 18499901
9. genetic variation in NT5C3 might affect protein function and potentially influence drug response PMID: 19623099

Show More

Hide All

HGNC: 17820

OMIM: 266120

KEGG: hsa:51251

STRING: 9606.ENSP00000242210

UniGene: Hs.487933