{"symbol":"SLC29A3","synonyms":["ENT3","HJCD","PHID","HCLAP"],"name":"solute carrier family 29 (equilibrative nucleoside transporter), member 3","description":"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.[provided by RefSeq, Mar 2010]","ncbiEntrezGeneId":55315,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/55315","proteins":[{"symbol":"S29A3_HUMAN","href":"/api/1.0/protein/S29A3_HUMAN"}],"hgncRootFamilies":[{"name":"Solute carriers (SLC)","href":"/api/1.0/gene_family/Solute+carriers+%28SLC%29"}]}