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]
Function:
High-affinity transporter for the intake of thiamine.
Subcellular Location:
Membrane.
Tissue Specificity:
Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung.
DISEASE:
Defects in SLC19A2 are the cause of thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]; 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.
Similarity:
Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family.
SWISS:
O60779
Gene ID:
10560
Database links:
Entrez Gene: 10560 Human
Entrez Gene: 116914 Mouse
Entrez Gene: 289175 Rat
Omim: 603941 Human
SwissProt: O60779 Human
SwissProt: Q9EQN9 Mouse
SwissProt: Q499Q0 Rat
Unigene: 30246 Human
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