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Product Name SLC19A2 Chinese Name SLC19A2抗体 Alias Thiamine transporter 1; S19A2_HUMAN; SLC19A2; Solute carrier family 19 member 2; TC1; Thiamine carrier 1; THT1; ThTr 1; ThTr-1; ThTr1; TRMA. Research Area Tumour Signal transduction The new supersedes the old Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 55kDa Cellular localization The cell membrane Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human SLC19A2: 21-120/497 <Extracellular> Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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. [provided by RefSeq, Jul 2008]
Function:
High-affinity transporter for the intake of thiamine.
Subcellular Location:
Membrane.
Tissue Specificity:
Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung.
DISEASE:
Defects in SLC19A2 are the cause of thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]; also known as Rogers syndrome. TRMA is an autosomal recessive disease with features that include megaloblastic anemia, mild thrombocytopenia and leucopenia, sensorineural deafness and diabetes mellitus.
Similarity:
Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family.
SWISS:
O60779
Gene ID:
10560
Database links:Entrez Gene: 10560 Human
Entrez Gene: 116914 Mouse
Omim: 603941 Human
SwissProt: O60779 Human
SwissProt: Q9EQN9 Mouse
Unigene: 30246 Human
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