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

rs121912583 in SLC29A3 gene and Histiocytosis with joint contractures and sensorineural deafness 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.

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

PMID 20595384 2010 Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.

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

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

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

PMID 24894595 2015 Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome.

PMID 29041934 2017 H syndrome: 5 new cases from the United States with novel features and responses to therapy.

rs1084004 in SLC29A3 gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs1417210 in SLC29A3 gene and Vitiligo PMID 22951725 2013 Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.