SLC19A2, Polyclonal Antibody

TC1; THT1; TRMA; THMD1; THTR1

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

Polyclonal

Rabbit

The antibody detects endogenous levels of total SLC19A2 protein.

Antigen affinity purification.

Rabbit IgG in pH7.3 PBS, 0.05% NaN3, 50% Glycerol.

0.8 mg/ml (lot specific)

Store at -20 degree C

Small volumes of anti-SLC19A2 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.

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.

Total protein Ab

Immunohistochemistry (IHC)

Immunohistochemistry: 1:15-1:50

Immunohistochemical analysis of paraffin-embedded Human brain tissue using at dilution 1/15.

32,858 Da

solute carrier family 19 (thiamine transporter), member 2

thiamine transporter 1

Thiamine transporter 1

THT1; TRMA; ThTr-1; ThTr1; TC1  [Similar Products]

S19A2_HUMAN

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]

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, integral; Transporter, SLC family; Membrane protein, multi-pass; Transporter

Chromosomal Location of Human Ortholog: 1q23.3

Cellular Component: integral to membrane; integral to plasma membrane; plasma membrane

Molecular Function: folic acid transporter activity; protein binding; thiamin transmembrane transporter activity; thiamin uptake transmembrane transporter activity

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

Disease: Thiamine-responsive Megaloblastic Anemia Syndrome

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