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Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-5619063

PubChem

R-HSA-5619063

Description

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 as well as anticancer and antiviral agents such as cladribine, cordycepin, tubercidin and AZT. 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 (Morgan et al. 2010, Colmenero et al. 2012, Young et al. 2013).

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SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying 1 entry
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
Q9BZD2	Equilibrative nucleoside transporter 3	ENT3 SLC29A3 UNQ717/PRO1380	view

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