solute carrier family 19 member 3
Dernière mise à jour 2 mai 2023
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La 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).
Normal function
La 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).
Conditions referring to this gene or chromosome
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
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Lectures complémentaires et références
- solute carrier family 19 member 3; MedlinePlus, National Library of Medicine.
- Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al Rifai MT, Al Shalaan H, Al Balwi M, Al Rumayan A, Eyaid W, Al-Twaijri W. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J Rare Dis. 2013 Jun 6;8:83. doi: 10.1186/1750-1172-8-83.
- Debs R, Depienne C, Rastetter A, Bellanger A, Degos B, Galanaud D, Keren B, Lyon-Caen O, Brice A, Sedel F. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol. 2010 Jan;67(1):126-30. doi: 10.1001/archneurol.2009.293.
- El-Hajj TI, Karam PE, Mikati MA. Biotin-responsive basal ganglia disease: case report and review of the literature. Neuropediatrics. 2008 Oct;39(5):268-71. doi: 10.1055/s-0028-1128152. Epub 2009 Mar 17.
- Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013. Epub 2013 Feb 18.
- Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Haberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain. 2013 May;136(Pt 5):1534-43. doi: 10.1093/brain/awt054. Epub 2013 Mar 12.
- Tabarki B, Al-Shafi S, Al-Shahwan S, Azmat Z, Al-Hashem A, Al-Adwani N, Biary N, Al-Zawahmah M, Khan S, Zuccoli G. Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. Neurology. 2013 Jan 15;80(3):261-7. doi: 10.1212/WNL.0b013e31827deb4c. Epub 2012 Dec 26.
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