Synonyms: ENT3,Equilibrative nucleoside transporter 3,HCLAP,hENT3,HJCD,PHID,S29A3,SLC29A3,Solute carrier family 29 (equilibrative nucleoside transporter) member 3,Solute carrier family 29 (nucleoside transporters) member 3,Solute carrier family 29 member 3
Background: 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.