8070480721ENSG00000135917ENSMUSG00000038496Q9BZV2Q99PL8NM_025243NM_001371411NM_001371412NM_001371413NM_001371414NM_030556NP_079519NP_001358340NP_001358341NP_001358342NP_001358343NP_085033Thiamine transporter 2 (ThTr-2), also known as solute carrier family 19 member 3, is a protein that in humans is encoded by the SLC19A3 gene.

[8] Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated.

Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen.

Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia.

[5] This article incorporates text from the United States National Library of Medicine, which is in the public domain.