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Solute Carrier Family 29 Member 3 Proteins (SLC29A3)

SLC29A3 encodes a nucleoside transporter. Additionally we are shipping Solute Carrier Family 29 Member 3 Antibodies (25) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
SLC29A3 55315 Q9BZD2
SLC29A3 353307 Q80WK7
SLC29A3 71279 Q99P65
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Top Solute Carrier Family 29 Member 3 Proteins at antibodies-online.com

Showing 3 out of 3 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
Insect Cells Mouse rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.25 mg Log in to see 49 to 54 Days
$4,244.78
Details
Insect Cells Human rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.5 mg Log in to see 49 to 54 Days
$6,041.49
Details
HOST_Escherichia coli (E. coli) Cow Un-conjugated   5 applications Log in to see 1 to 2 Days
$312.71
Details

SLC29A3 Proteins by Origin and Source

Origin Expressed in Conjugate
Human ,

Rat (Rattus)
Mouse (Murine) ,

More Proteins for Solute Carrier Family 29 Member 3 (SLC29A3) 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 Proteins)-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 Proteins).

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

  5. we describe two unrelated children with DSS (show NR0B1 Proteins) 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) Protein Profile

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

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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