Nucleoside transporters, such as SLC29A3, mediate uptake of precursors for nucleotide synthesis by salvage pathways. They are also required for uptake of hydrophilic anticancer and antiviral nucleoside drugs.
PAthology
Germline mutations in H syndrome (MIM.612391)
- pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome
SLC29A3 cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease (Plos Genetics)
References
Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes. Edghill EL, Hameed S, Verge CF, Rubio-Cabezas O, Argente J, Sumnik Z, Dusatkova P, Cliffe ST, Hennekam RC, Buckley MF, Hussain K, Ellard S, Attersley AT. JOP. 2009 Jul 6;10(4):457-8. PMID: 19581757
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Cliffe ST, Kramer JM, Hussain K, Robben JH, de Jong EK, de Brouwer AP, Nibbeling E, Kamsteeg EJ, Wong M, Prendiville J, James C, Padidela R, Becknell C, van Bokhoven H, Deen PM, Hennekam RC, Lindeman R, Schenck A, Roscioli T, Buckley MF. Hum Mol Genet. 2009 Jun 15;18(12):2257-65. PMID: 19336477