SLC19A3 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SLC19A3 wild-type allele is located in the vicinity of 2q36.3 and is approximately 34 kb in length. This allele, which encodes thiamine transporter 2 protein, plays a role in thiamine and pyridoxine transport. Mutations in the gene are associated with biotin/thiamine-responsive basal ganglia disease (thiamine metabolism dysfunction syndrome 2).

**Synonyms:** - BBGD - Solute Carrier Family 19 (Thiamine Transporter), Member 3 Gene - Solute Carrier Family 19 Member 3 wt Allele - Solute Carrier Family 19, Member 3 Gene - THMD2 - THTR2 - hTHTR2 - thTr-2