Disease-gene associations mined from literature

Human genes for biotin-responsive basal ganglia disease

Biotin-responsive basal ganglia disease [DOID:0050659]

Thiamine 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. SLC19A3 is a thiamine transporter.

Synonyms:  biotin-responsive basal ganglia disease,  DOID:0050659,  biotinresponsive basal ganglia disease,  biotin-responsive basal ganglia disorder,  biotin-responsive basal ganglia syndrome

Linkouts:  OMIM