Gene: SLC29A3

Alternate names for this Gene: ENT3|HCLAP|HJCD|PHID

Gene Summary: This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.1

Description of this Gene: solute carrier family 29 member 3

Type of Gene: protein-coding

Gene: LOC105378353

Alternate names for this Gene:

Gene Summary:

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rs267607057 in SLC29A3;LOC105378353 gene and Histiocytosis with joint contractures and sensorineural deafness PMID 20595384 2010 Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.

PMID 19889517 2010 The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.

PMID 18940313 2008 The H syndrome is caused by mutations in the nucleoside transporter hENT3.

PMID 20399510 2010 Early-onset sensorineural hearing loss is a prominent feature of H syndrome.

PMID 19336477 2009 SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

PMID 20619369 2011 Expanding the clinical spectrum of SLC29A3 gene defects.

PMID 20199539 2010 H syndrome: novel and recurrent mutations in SLC29A3.

PMID 21888995 2012 Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.

PMID 20140240 2010 Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.