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References

These sources were used to develop the Genetics Home Reference gene summary on the SLC19A2 gene.

Baron D, Assaraf YG, Cohen N, Aronheim A. Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family. Mol Med. 2002 Aug;8(8):462-74. PubMed citation
Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet. 1999 Jul;22(3):309-12. PubMed citation
Entrez Gene
Gene Review: Thiamine-Responsive Megaloblastic Anemia Syndrome
Liberman MC, Tartaglini E, Fleming JC, Neufeld EJ. Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype. J Assoc Res Otolaryngol. 2006 Sep;7(3):211-7. Epub 2006 Apr 27. PubMed citation
Ricketts CJ, Minton JA, Samuel J, Ariyawansa I, Wales JK, Lo IF, Barrett TG. Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families. Acta Paediatr. 2006 Jan;95(1):99-104. PubMed citation
Subramanian VS, Marchant JS, Parker I, Said HM. Cell biology of the human thiamine transporter-1 (hTHTR1). Intracellular trafficking and membrane targeting mechanisms. J Biol Chem. 2003 Feb 7;278(6):3976-84. Epub 2002 Nov 25. PubMed citation

Reviewed: February 2009

Published: May 13, 2013