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Solute Carrier Family 19 (Thiamine Transporter), Member 2 (SLC19A2) ELISA Kits

SLC19A2 encodes the thiamin transporter protein. Additionally we are shipping SLC19A2 Antibodies (10) and and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Rat SLC19A2 SLC19A2 289175  
Anti-Human SLC19A2 SLC19A2 10560 O60779
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More ELISA Kits for SLC19A2 Interaction Partners

Human Solute Carrier Family 19 (Thiamine Transporter), Member 2 (SLC19A2) interaction partners

  1. A novel homozygous SLC19A2 gene mutation c.[205G>T], p.[(Val69Phe)] causing thiamine responsive megaloblastic anemia syndrome.

  2. Individuals with genotype A80A for the SLC19A1 (show SLC19A1 ELISA Kits) gene have a poor absorption of folate, altering the metabolism of folate and compromising the process of cell division promoting development of neuroblastoma (show ARHGEF16 ELISA Kits).

  3. The present study confirms the variability of the clinical manifestations caused by the same mutation within patients with TRMA syndrome.

  4. the novel SLC19A2 mutation reported here may have contributed to the patient's psychotic manifestations by an unknown mechanism

  5. Missense mutations were found in the SLC19A2 gene of 4 Chinese patients with thiamine responsive megaloblastic anemia.

  6. Here we describe for the first time Leber's congenital amaurosis as the retinal phenotype and also report a novel point mutation in the SLC19A2 gene that co-segregated with the disease in a thiamine responsive megaloblastic anemia patient.

  7. Allelic expression imbalance confirmed that cis variation at the human SLC35F3 locus influenced expression of that gene, and the allelic expression imbalance peak coincided with the hypertension peak.

  8. study presents three thiamine-responsive megaloblastic anemia patients with a novel missense mutation in the SLC19A2 gene (c.382 G>A (p.E128K)). Administration of thiamine in patients with TRMA ameliorates the megaloblastic anemia and diabetes mellitus.

  9. These findings demonstrate that the genes involved in dictating thiamine homeostasis, such as SLC19A2, SLC25A19 and TPK-1, were significantly up-regulated in clinical tissues and breast cancer cell lines.

  10. study identified a compound heterozygous mutation p.Y81X/p.L457X (c.242insA/c.1370delT) in the SLC19A2 gene in two sisters with thiamine responsive megaloblastic anemia

SLC19A2 Antigen Profile

Antigen Summary

This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness.

Gene names and symbols associated with SLC19A2

  • solute carrier family 19 (thiamine transporter), member 2 (Slc19a2) antibody
  • solute carrier family 19 (thiamine transporter), member 2 (SLC19A2) antibody
  • solute carrier family 19 (thiamine transporter), member 2 (slc19a2) antibody
  • SLC19A2 antibody
  • TC1 antibody
  • THMD1 antibody
  • THT1 antibody
  • THTR1 antibody
  • TRMA antibody

Protein level used designations for SLC19A2

thiamine transporter 1 , solute carrier family 19 (thiamine transporter), member 2 , Novel solute carrier family 19 protein , thiamine transporter 1-like , high affinity thiamine transporter , reduced folate carrier protein (RFC) like , solute carrier family 19 member 2 , thTr-1

289175 Rattus norvegicus
427957 Gallus gallus
490353 Canis lupus familiaris
532860 Bos taurus
734059 Xenopus (Silurana) tropicalis
100014377 Monodelphis domestica
100446760 Pongo abelii
100540051 Meleagris gallopavo
10560 Homo sapiens
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