AAH18514.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
SLC19A2 protein
NCBI Official Synonym Full Names
solute carrier family 19 (thiamine transporter), member 2
NCBI Protein Information
thiamine transporter 1; high affinity thiamine transporter; reduced folate carrier protein (RFC) like; solute carrier family 19 member 2; thTr-1
UniProt Protein Name
Thiamine transporter 1
UniProt Synonym Protein Names
Solute carrier family 19 member 2; Thiamine carrier 1; TC1
UniProt Synonym Gene Names
UniProt Entry Name
S19A2_HUMAN
NCBI Summary for SLC19A2
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 Comments for SLC19A2
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: Transporter, SLC family; Transporter; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 1q23.3
Cellular Component: integral to membrane; plasma membrane
Molecular Function: folic acid transporter activity; protein binding; thiamin transmembrane transporter activity; thiamin uptake 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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Products associated with anti-SLC19A2 antibody
Pathways associated with anti-SLC19A2 antibody
Diseases associated with anti-SLC19A2 antibody
Organs/Tissues associated with anti-SLC19A2 antibody
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