Mutations in the SLC19A2 gene can cause<unk> -responsive megaloblastic anemia syndrome (TRMA), which is 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<unk> . Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke. A 3.8 kb transcript is expressed variably in most tissues, highest in skeletal and cardiac muscle, followed by medium expression placenta, heart, liver, kidney cells and low expression in lung cells. In melanocytic cells SLC19A2 gene expression may be regulated by MITF.
Thiamine transporter 1
Sodium-chloride symporter
Norepinephrine transporter
Vesicular monoamine transporter 1
Glutamate transporter
Sulfate transporter
Carboxylate transporter
Zinc transporter 8