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Solute Carrier Family 29 Member 3 (SLC29A3) ELISA Kits

SLC29A3 encodes a nucleoside transporter. Additionally we are shipping Solute Carrier Family 29 Member 3 Antibodies (24) and Solute Carrier Family 29 Member 3 Proteins (3) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Human SLC29A3 SLC29A3 55315 Q9BZD2
Anti-Rat SLC29A3 SLC29A3 353307 Q80WK7
Anti-Mouse SLC29A3 SLC29A3 71279 Q99P65
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More ELISA Kits for Solute Carrier Family 29 Member 3 Interaction Partners

Human Solute Carrier Family 29 Member 3 (SLC29A3) interaction partners

  1. novel mutation c.401G>A associated with pigmented hypertrichosis with insulin (show INS ELISA Kits)-dependent diabetes mellitus syndrome

  2. SLC29A3 genetic polymorphisms may have a role in overall survival in advanced non-small-cell lung cancer treated with gemcitabine

  3. Mutation analysis of the SLC29A3 gene revealed a novel nonsense mutation in H syndrome with agenesis of the inferior vena cava (show CA5A ELISA Kits).

  4. Homozygous mutation in SLC29A3 in 2 children of consanguineous parents exhibit H syndrome: insulin (show INS ELISA Kits)-dependent diabetes, hyperpigmentation, hepatosplenomegaly, lymphadenopathy, left ventricular hypertrophy, sensorineural hearing loss. [CASE REPORT]

  5. we describe two unrelated children with DSS (show NR0B1 ELISA Kits) associated with autosomal recessive inheritance of variants in SLC29A3.

  6. 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.

  7. The 'rescue' role played by a normally noncoding mRNA splice variant of SLC29A3, uncovering a new mechanism by which frameshift mutations can be hypomorphic.

  8. severe reductions/losses of hENT3 nucleoside transport functions of hENT3 syndrome mutants

  9. 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).

  10. analysis of two novel mutations affecting the same amino acid residue of hENT3 in H syndrome [case report]

Mouse (Murine) Solute Carrier Family 29 Member 3 (SLC29A3) interaction partners

  1. study found mice lacking ENT3 developed spontaneous and progressive macrophage-dominated histiocytosis; in absence of ENT3, defective apoptotic cell clearance led to lysosomal nucleoside buildup, elevated intralysosomal pH and altered macrophage function

  2. 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.

Solute Carrier Family 29 Member 3 (SLC29A3) Antigen Profile

Antigen Summary

This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.

Gene names and symbols associated with SLC29A3

  • solute carrier family 29 (equilibrative nucleoside transporter), member 3 (SLC29A3) antibody
  • solute carrier family 29 (equilibrative nucleoside transporter), member 3 (Slc29a3) antibody
  • solute carrier family 29 (nucleoside transporters), member 3 (Slc29a3) antibody
  • solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3) antibody
  • 4933435C21Rik antibody
  • AW987637 antibody
  • Ent3 antibody
  • HCLAP antibody
  • HJCD antibody
  • PHID antibody

Protein level used designations for SLC29A3

equilibrative nucleoside transporter 3 , solute carrier family 29 (nucleoside transporters), member 3 , solute carrier family 29 member 3 , mENT3

GENE ID SPECIES
55315 Homo sapiens
353307 Rattus norvegicus
71279 Mus musculus
504503 Bos taurus
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