The human gene SLC29A3 encodes the equilibrative nucleoside transporter 3 (ENT3). It is abundant in many tissues, especially the placenta and is localized intracellularly on the lysosomal membrane. SLC29A3 mediates the reversible transport of nucleosides and the nucleobase adenine (Baldwin et al. 2005). Defects in SLC29A3 can cause histiocytosis-lymphadenopathy plus syndrome (HLAS; MIM:602782), an autosomal recessive disorder characterised by combined features from 2 or more of four histiocytic disorders (Molho-Pessach et al. 2008).
Ritzel, MW, Foppolo, S, Hyde, RJ, Ng, AM, Barnes, K, Baldwin, SA, Young, JD, Cass, CE, Yao, SY
nucleoside transmembrane transporter activity of SLC29A3 [lysosomal membrane]
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