Solute Carrier Family 29 Member 3 Protéines (SLC29A3)

SLC29A3 encodes a nucleoside transporter. De plus, nous expédions Solute Carrier Family 29 Member 3 Anticorps (34) et beaucoup plus de produits pour cette protéine.

afficher tous les protéines Gène GeneID UniProt
SLC29A3 55315 Q9BZD2
SLC29A3 353307 Q80WK7
SLC29A3 71279 Q99P65
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Showing 3 out of 3 products:

Catalogue No. Origin Source Conjugué Images Quantité Fournisseur Livraison Prix Détails
Cellules d'insectes Souris rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.25 mg Connectez-vous pour afficher 50 to 55 Days
$5,355.45
Détails
Cellules d'insectes Humain rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.5 mg Connectez-vous pour afficher 50 to 55 Days
$7,626.01
Détails
Escherichia coli (E. coli) Boeuf (Vache) Inconjugué   5 applications Connectez-vous pour afficher 1 to 2 Days
$318.85
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SLC29A3 Protéines protéines par origine et source

Origin Exprimée danse Conjugué
Human ,

Rat (Rattus)
Mouse (Murine) ,

Plus protéines pour Solute Carrier Family 29 Member 3 (SLC29A3) partenaires d'interaction

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

  1. 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.

  2. The results suggest a putative pH-sensing role for Asp (Montrer ASIP Protéines)-219 and Glu (Montrer DCTN1 Protéines)-447 in hENT3 and that the size, ionization state, or electronegative polarity at these positions is crucial for obligate acidic pH-dependent activity.

  3. A homozygous c.1339G>A (p.Glu447Lys) mutation in the SLC29A3 gene.

  4. novel mutation c.401G>A associated with pigmented hypertrichosis with insulin (Montrer INS Protéines)-dependent diabetes mellitus syndrome

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

  6. Mutation analysis of the SLC29A3 gene revealed a novel nonsense mutation in H syndrome with agenesis of the inferior vena cava (Montrer CA5A Protéines).

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

  8. we describe two unrelated children with DSS (Montrer NR0B1 Protéines) associated with autosomal recessive inheritance of variants in SLC29A3.

  9. 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.

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

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.

Profil protéine Solute Carrier Family 29 Member 3 (SLC29A3)

Profil protéine

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

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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