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Equilibrative nucleoside transporter 3

The SLC29A3 gene encodes a nucleoside transporter. Mutations cause autosomal recessive histiocytosis with a great variety of clinical features which are collectively named H syndrome.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

H syndrome



Hyde RJ et al. () The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms.

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Melki I et al. (2013) Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition.

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Campeau PM et. al. (2012) Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.

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Farooq M et. al. (2012) Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin.

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Bolze A et. al. (2012) A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.

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Hsu CL et al. (2012) Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis.

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Jonard L et. al. (2012) Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.

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Avitan-Hersh E et. al. (2011) A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease.

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Spiegel R et. al. () Expanding the clinical spectrum of SLC29A3 gene defects.

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Kang N et al. (2010) Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.

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Morgan NV et. al. (2010) Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.

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Molho-Pessach V et. al. (2010) The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.

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Cliffe ST et. al. (2009) SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

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Hussain K et. al. (2009) Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome.

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de Pontual L et. al. (2008) Rhinoscleroma: a French national retrospective study of epidemiological and clinical features.

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Molho-Pessach V et. al. (2008) The H syndrome is caused by mutations in the nucleoside transporter hENT3.

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Prendiville J et. al. () Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder?

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Marina S et. al. () POEMS in childhood.

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Rossbach HC et. al. (2006) Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness.

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Kismet E et. al. (2005) Sinus histiocytosis with massive lymphadenopathy in three brothers.

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Baldwin SA et al. (2005) Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes.

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Moynihan LM et. al. (1998) Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.

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Update: Aug. 14, 2020
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