NT5C2 Antibody

1. NT5C2 mutations seem to have a broad clinical spectrum and should be sought in patients manifesting either as uncomplicated or complicated spastic paraplegia PMID: 28884889
2. Using data from a large-scale genome-wide association study of schizophrenia, study identified several potentially functional variants relating to miRNA function with our top finding being a schizophrenia protective allele that disrupts miR-206s binding to NT5C2 thus leading to increased expression of this gene. PMID: 27424800
3. acute lymphoblastic leukemia-specific mutations affect regulation of cN-II PMID: 27756303
4. this study implicates altered neural expression of BORCS7, AS3MT, and NT5C2 in susceptibility to schizophrenia arising from genetic variation at the chromosome 10q24 locus PMID: 27004590
5. NT5C2 variant rs11191580 conferred susceptibility to schizophrenia and affected the clinical symptoms of schizophrenia in a South Chinese Han population. PMID: 27901213
6. The aberrantly spliced NT5C2 showed substantial reduction in expression level in the in-vitro study, indicating marked instability of the mutant NT5C2 protein. PMID: 28327087
7. Leukemia Relapse-Associated Mutation of NT5C2 Gene is Rare in de Novo Acute Leukemias and Solid Tumors. PMID: 26259531
8. cN-II co-immunoprecipitated both with wild type Ipaf and its LRR domain after transfection with corresponding expression vectors, but not with Ipaf lacking the LRR domain. PMID: 25811392
9. Data indicate that type II cytosolic 5'-nucleotidase (cN-II) exerts a role in nucleotide and drug metabolism and regulating cell survival. PMID: 25857773
10. Four novel body mass index-associated loci near the KCNQ1(rs2237892), ALDH2/MYL2 (rs671, rs12229654), ITIH4 (rs2535633) and NT5C2 (rs11191580) genes are identified in East Asian-ancestry populations. PMID: 24861553
11. These results suggest that mutations in NT5C2 are associated with the outgrowth of drug-resistant clones in acute lymphoblastic leukemia PMID: 23377183
12. results highlight the prominent role of relapse-specific mutations in NT5C2 as a mechanism of resistance to 6-Mercaptopurine and a genetic driver of relapse in acute lymphoblastic leukemia PMID: 23377281
13. analysis of Drosophila and human 7-methyl GMP-specific nucleotidases PMID: 23223233
14. Polymorphisms in the CYP17A1 and NT5C2 genes influence a reduction in both visceral and subcutaneous fat mass in Japanese women. PMID: 22071413
15. seven high-resolution structures of human cN-II, including a ligand-free form and complexes with various substrates and effectors, were presented. PMID: 21396942
16. cN-II has a role in protecting against progression of non-small cell lung cancer PMID: 15923058
17. the expression level of cN-II mRNA might be a prognostic factor of high-risk MDS. PMID: 17350683
18. Data describe the crystal structure of human cytosolic 5'-nucleotidase II and discuss its allosteric regulation and substrate recognition. PMID: 17405878
19. In leukoblasts from 82 patients with acute myeloid leukemia, various extent and frequency of differential allelic expression in the CDA, DCK, NT5C2, NT5C3, and TP53 genes was observed. PMID: 18775979
20. The DCK/cN-II ratio was again proportional to ara-CTP production and to ara-C sensitivity. PMID: 19428333

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HGNC: 8022

OMIM: 600417

KEGG: hsa:22978

STRING: 9606.ENSP00000339479

UniGene: Hs.734531