The SLC19A3 gene provides instructions for making a protein called a thiamine transporter, which moves a vitamin called thiamine into cells. Thiamine, also known as vitamin B1, is obtained from the diet. It is involved in many cellular processes, and is necessary for proper functioning of the nervous system. Molecules made from thiamine are important in the breakdown of sugars and protein building blocks (amino acids). Thiamine is also involved in the production of certain chemicals that relay signals in the nervous system (neurotransmitters).
Other Names
BBGD; S19A3_HUMAN; solute carrier family 19 (thiamine transporter), member 3; solute carrier family 19, member 3; thiamine transporter 2; THMD2; thTr-2; THTR2
Related Genetics Topics
- Leigh syndrome — MedlinePlus Genetics
- Biotin-thiamine-responsive basal ganglia disease — MedlinePlus Genetics
Identifiers
- NCBI Gene: 80704
- OMIM: 606152
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
