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Protein Page:
SLC19A2 (human)

Overview
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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, SLC family
Chromosomal Location of Human Ortholog: 1q23.3
Cellular Component: integral to plasma membrane; plasma membrane
Molecular Function: protein binding; thiamin transmembrane transporter activity; thiamin uptake transmembrane transporter activity
Biological Process: thiamin and derivative metabolic process
Disease: Thiamine-responsive Megaloblastic Anemia Syndrome
Reference #:  O60779 (UniProtKB)
Alt. Names/Synonyms: high affinity thiamine transporter; reduced folate carrier protein (RFC) like; S19A2; SLC19A2; solute carrier family 19 (thiamine transporter), member 2; Solute carrier family 19 member 2; TC1; Thiamine carrier 1; Thiamine transporter 1; THT1; ThTr-1; ThTr1; TRMA
Gene Symbols: SLC19A2
Molecular weight: 55,400 Da
Basal Isoelectric point: 6.35  Predict pI for various phosphorylation states
Select Structure to View Below

SLC19A2

Protein Structure Not Found.


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