Solute Carrier Family 17 (Acidic Sugar Transporter), Member 5 (SLC17A5) Kits ELISA

SLC17A5 encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. De plus, nous expédions Solute Carrier Family 17 (Acidic Sugar Transporter), Member 5 Anticorps (36) et Solute Carrier Family 17 (Acidic Sugar Transporter), Member 5 Protéines (3) et beaucoup plus de produits pour cette protéine.

list all ELISA KIts Gène GeneID UniProt
SLC17A5 26503 Q9NRA2
SLC17A5 235504 Q8BN82
Anti-Rat SLC17A5 SLC17A5 363103  
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Catalogue No. Reactivité Sensibilité Gamme Images Quantité Livraison Prix Détails
Humain 0.078 ng/mL 0.156-10 ng/mL   96 Tests 2 to 3 Days
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  96 Tests 2 to 3 Days
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Plus Kits ELISA pour Solute Carrier Family 17 (Acidic Sugar Transporter), Member 5 partenaires d'interaction

Human Solute Carrier Family 17 (Acidic Sugar Transporter), Member 5 (SLC17A5) interaction partners

  1. study describes a novel pathogenic variant in SLC17A5, namely an intronic transposal insertion, in a patient with mild biochemical and clinical phenotypes. The presence of a small fraction of normal transcript may explain the mild phenotype. This case illustrates the importance of including lysosomal sialic acid storage disease in the differential diagnosis of developmental delay with postnatal onset and hypomyelination.

  2. Elevated levels of AST are Associated with Cardiovascular disease.

  3. These data demonstrate that sialin mediates nitrate influx into salivary gland and other cell types.

  4. the substrate-binding site of sialin (SLC17A5)

  5. Human SLC17A5 carrying mutations that causes both phenotypes of Salla disease and mutations that cause infantile sialic acid storage disease showed no transport activity

  6. analysis of crucial residues and substrate-induced conformational changes in SLC17 transporter sialin

  7. expression, localization, and targeting of the wild-type sialin, as well as two mutant polypeptides in sialic acid storage disorders

  8. In primary neuronal cultures sialin was not targeted into lysosomes but rather revealed a punctate staining along the neuronal processes and was also seen in the plasma membrane.

  9. Molecular studies showed that all four affected individuals were homozygous for the same novel 983G > A mutation in exon 8 of the SLC17A5 gene, replacing glycine with glutamic acid at position 328 of the sialin protein

  10. Two missense mutations and one small, in-frame deletion in sialin are associated with ISSD abolished transport, the mutation causing Salla disease (R39C) slowed down, but did not stop the transport cycle.

  11. there is a direct correlation between sialin function and the disease state of sialic acid storage disorders

  12. a SLC17A5 p.K136E mutation may have a role in a case of Italian severe Salla disease

  13. study assessed the effect of missense mutations in the sialin gene (G328E and G409E) and found complete loss of measurable transport activity with both and impaired trafficking of the G409E protein

  14. The lysosomal localization of human sialin was not or only partially affected by pathogenic missense mutations; in contrast, all pathogenic mutations abolished transport of sialic acid.

  15. sialin possesses dual physiological functions and acts as a vesicular aspartate/glutamate transporter

  16. Mutations in the SLC17A5 gene must be considered in two siblings with hypomyelination, even in the absence of sialuria.

Mouse (Murine) Solute Carrier Family 17 (Acidic Sugar Transporter), Member 5 (SLC17A5) interaction partners

  1. This study demonstrated that Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice.

  2. Autophagy regulates the stability of sialin, a lysosomal sialic acid transporter.

  3. The uptake of N-acetylaspartylglutamate into synaptic vesicles depends on sialic acid transporter sialin, SLC17A5.

  4. l-aspartate is exocytotically released from nerve terminals after vesicular accumulation by a transporter other than sialin.

  5. These findings suggest that a defect in maturation of cells in the oligodendrocyte lineage leads to increased apoptosis and underlies the myelination defect associated with sialin loss.

  6. sialin possesses dual physiological functions and acts as a vesicular aspartate/glutamate transporter

Solute Carrier Family 17 (Acidic Sugar Transporter), Member 5 (SLC17A5) profil antigène

Antigen Summary

This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form.

Gene names and symbols associated with SLC17A5

  • solute carrier family 17 member 5 (SLC17A5) anticorps
  • solute carrier family 17 member 5 S homeolog (slc17a5.S) anticorps
  • solute carrier family 17 (anion/sugar transporter), member 5 (Slc17a5) anticorps
  • solute carrier family 17 member 5 (Slc17a5) anticorps
  • solute carrier family 17 (acidic sugar transporter), member 5 (slc17a5) anticorps
  • 4631416G20Rik anticorps
  • 4732491M05 anticorps
  • AST anticorps
  • ISSD anticorps
  • NSD anticorps
  • sb:cb809 anticorps
  • SD anticorps
  • sialin anticorps
  • SIASD anticorps
  • SLD anticorps
  • SP55 anticorps
  • zgc:153077 anticorps

Protein level used designations for SLC17A5

H(+)/nitrate cotransporter , H(+)/sialic acid cotransporter , membrane glycoprotein HP59 , sialic acid storage disease , sialin , sodium/sialic acid cotransporter , solute carrier family 17 (anion/sugar transporter), member 5 , solute carrier family 17 member 5 , solute carrier family 17, member 5 , vesicular H(+)/Aspartate-glutamate cotransporter , proton-coupled sialic acid transporter , membrane glycoprotein SP55

GENE ID SPECIES
26503 Homo sapiens
421863 Gallus gallus
474969 Canis lupus familiaris
530164 Bos taurus
100158341 Xenopus laevis
100328660 Oryctolagus cuniculus
235504 Mus musculus
363103 Rattus norvegicus
443098 Ovis aries
767760 Danio rerio
100714527 Cavia porcellus
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