Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)

Stable Identifier
R-HSA-5619063
Type
Pathway
Species
Homo sapiens
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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).

Literature References
PubMed ID Title Journal Year
20140240 Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease

Morgan, NV, Morris, MR, Cangul, H, Gleeson, D, Straatman-Iwanowska, A, Davies, N, Keenan, S, Pasha, S, Rahman, F, Gentle, D, Vreeswijk, MP, Devilee, P, Knowles, MA, Ceylaner, S, Trembath, RC, Dalence, C, Kismet, E, Köseo?lu, V, Rossbach, HC, Gissen, P, Tannahill, D, Maher, ER

PLoS Genet. 2010
23506887 The human concentrative and equilibrative nucleoside transporter families, SLC28 and SLC29

Young, JD, Yao, SY, Baldwin, JM, Cass, CE, Baldwin, SA

Mol. Aspects Med. 2013
22356918 Emperipolesis: an additional common histopathologic finding in H syndrome and Rosai-Dorfman disease

Colmenero, I, Molho-Pessach, V, Torrelo, A, Zlotogorski, A, Requena, L

Am J Dermatopathol 2012
Participants
Participant Of
Disease
Name Identifier Synonyms
histiocytosis 3405 Hand Schuller Christian disease, chronic Histiocytosis X
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