Recombinant Human Equilibrative nucleoside transporter 3 (SLC29A3), partial

1. Study in Tunisian patients extends the mutation spectrum of H syndrome by reporting a novel frame-shift mutation, the p.S15Pfs*86 in exon 2 of SLC29A3 gene. PMID: 29808591
2. 225D and 231L in the N-terminal half of hENT3 partially contribute to the ability of hENT3 to transport AZT and DDI. PMID: 29530865
3. In a patient with H syndrome, a compound heterozygous alteration in the SLC29A3 gene was found. Her parents each had one of the mutations. The c.243delA frameshift mutation leading to a premature termination, resulting in a truncated protein, and a splice site mutation c.300+1G>C predicted to cause a splicing error. Patients with similar mutations are reviewed. PMID: 27316388
4. The results suggest a putative pH-sensing role for Asp-219 and Glu-447 in hENT3 and that the size, ionization state, or electronegative polarity at these positions is crucial for obligate acidic pH-dependent activity. PMID: 28729424
5. A homozygous c.1339G>A (p.Glu447Lys) mutation in the SLC29A3 gene. PMID: 28554179
6. novel mutation c.401G>A associated with pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome PMID: 24894595
7. SLC29A3 genetic polymorphisms may have a role in overall survival in advanced non-small-cell lung cancer treated with gemcitabine PMID: 24535606
8. Mutation analysis of the SLC29A3 gene revealed a novel nonsense mutation in H syndrome with agenesis of the inferior vena cava. PMID: 23406517
9. Homozygous mutation in SLC29A3 in 2 children of consanguineous parents exhibit H syndrome: insulin-dependent diabetes, hyperpigmentation, hepatosplenomegaly, lymphadenopathy, left ventricular hypertrophy, sensorineural hearing loss. [CASE REPORT] PMID: 22989030
10. we describe two unrelated children with DSS associated with autosomal recessive inheritance of variants in SLC29A3. PMID: 22875837
11. Two novel mutations in the SLC29A3 gene were identified: a homozygous splice site mutation IVS1+2T>1 G, and a homozygous missense mutation c.1157G>1 A (p.R386Q) which substituted highly conserved amino acid residue in a transmembrane domain. PMID: 22653152
12. The 'rescue' role played by a normally noncoding mRNA splice variant of SLC29A3, uncovering a new mechanism by which frameshift mutations can be hypomorphic. PMID: 22238637
13. severe reductions/losses of hENT3 nucleoside transport functions of hENT3 syndrome mutants PMID: 20595384
14. The genotype (CC, TC, IT) and allele distribution of the ENT3 single nudcleotide polymorphism in the patients with lung cancer was not significantly different compared with that in controls (P > 0.05). PMID: 20677642
15. Mutation analysis showed that both parents and one of the three siblings were heterozygous for the mutation and that the mutation was absent in the remaining two siblings as well as in 100 normal control samples from the same ethnic population. PMID: 20199539
16. analysis of two novel mutations affecting the same amino acid residue of hENT3 in H syndrome [case report] PMID: 19889517
17. Mutation analysis of candidate genes within the target interval identified biallelic germline mutations in SLC29A3 in the Faisalabad histiocytosis kindred and in two families reported to have familial Rosai-Dorfman disease. PMID: 20140240
18. broad selectivity, low affinity nucleoside transporter that can also transport adenine PMID: 15701636
19. H syndrome is caused by mutations in the nucleoside transporter hENT3 PMID: 18940313
20. These data suggest that cellular localization of hENT3 is cell type dependent and the native transporter is substantially expressed in mitochondria and/or cell surface. PMID: 19164483
21. Five loss-of-function mutations were identified in the SLC29A3 gene in patients with pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. PMID: 19336477
22. Data show that SLC29A3 is expressed in the islet and recessive mutations are likely to result in beta cell failure. PMID: 19581757

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HGNC: 23096

OMIM: 602782

KEGG: hsa:55315

STRING: 9606.ENSP00000362285

UniGene: Hs.438419