solute carrier family 19; member 3; SLC19A3; THTR2

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

Antigen Affinity Purified

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of anti-SLC19A3 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

ELISA (EIA), Western Blot (WB)

55,665 Da[Similar Products]

solute carrier family 19 (thiamine transporter), member 3

thiamine transporter 2; thTr-2; solute carrier family 19, member 3

Thiamine transporter 2

ThTr-2; ThTr2??[Similar Products]

S19A3_HUMAN

This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]

SLC19A3: Mediates high affinity thiamine uptake, propably via a proton anti-port mechanism. Has no folate transport activity. Defects in SLC19A3 are the cause of biotin-responsive basal ganglia disease (BBGD). BBGD is a recessive disorder with childhood onset that presents as a subacute encephalopathy, with confusion, dysarthria, and dysphagia, and that progresses to severe rigidity, dystonia, quadriparesis and death if not treated. Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family.

Protein type: Transporter, SLC family; Transporter; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 2q37

Cellular Component: plasma membrane; integral to membrane

Molecular Function: thiamin uptake transmembrane transporter activity

Biological Process: vitamin metabolic process; thiamin and derivative metabolic process; water-soluble vitamin metabolic process

Disease: Thiamine Metabolism Dysfunction Syndrome 2 (biotin- Or Thiamine-responsive Type)

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