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]

Full Name

solute carrier family 19 (thiamine transporter), member 2

Function

High-affinity transporter for the intake of thiamine.

Biological Process

Biological Process spermatogenesisIEA:Ensembl
Biological Process thiamine transmembrane transportISS:BHF-UCL
Biological Process thiamine transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process thiamine-containing compound metabolic processTAS:Reactome
Biological Process transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Cell membrane

Involvement in disease

Thiamine-responsive megaloblastic anemia syndrome (TRMA):
An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke.

Topology

Cytoplasmic: 1-28
Helical: 29-46
Extracellular: 47-72
Helical: 73-91
Cytoplasmic: 92-99
Helical: 100-118
Extracellular: 119-128
Helical: 129-149
Cytoplasmic: 150-165
Helical: 166-185
Extracellular: 186-191
Helical: 192-208
Cytoplasmic: 209-285
Helical: 286-310
Extracellular: 311-337
Helical: 338-354
Cytoplasmic: 355-363
Helical: 364-380
Extracellular: 381-386
Helical: 387-409
Cytoplasmic: 410-419
Helical: 420-443
Extracellular: 444-455
Helical: 456-479
Cytoplasmic: 480-497