Human solute carrier family 19 (thiamine transporter) , member 2 ELISA Kit | SLC19A2 elisa kit
Human Thiamine transporter 1, SLC19A2 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
SLC19A2: High-affinity transporter for the intake of thiamine. Defects in SLC19A2 are the cause of thiamine-responsive megaloblastic anemia syndrome (TRMA); 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. Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, multi-pass; Membrane protein, integral; Transporter, SLC family; Transporter
Chromosomal Location of Human Ortholog: 1q23.3
Cellular Component: integral to membrane; plasma membrane
Molecular Function: folic acid transporter activity; protein binding; thiamin uptake transmembrane transporter activity; thiamin transmembrane transporter activity
Biological Process: vitamin metabolic process; thiamin and derivative metabolic process; thiamin transport; water-soluble vitamin metabolic process; folic acid transport
Disease: Thiamine-responsive Megaloblastic Anemia Syndrome
Research Articles on SLC19A2
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Product Notes
The Human SLC19A2 slc19a2 (Catalog #AAA9320739) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9320739 ELISA Kit recognizes Human SLC19A2. It is sometimes possible for the material contained within the vial of "solute carrier family 19 (thiamine transporter) , member 2, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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