Aliases for SLC29A3 Gene
External Ids for SLC29A3 Gene
Previous GeneCards Identifiers for SLC29A3 Gene
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]
GeneCards Summary for SLC29A3 Gene
SLC29A3 (Solute Carrier Family 29 Member 3) is a Protein Coding gene. Diseases associated with SLC29A3 include Histiocytosis-Lymphadenopathy Plus Syndrome and Dysosteosclerosis. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Transport of vitamins, nucleosides, and related molecules. Gene Ontology (GO) annotations related to this gene include nucleoside transmembrane transporter activity. An important paralog of this gene is SLC29A1.
UniProtKB/Swiss-Prot Summary for SLC29A3 Gene
Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine.
Nucleoside transporters are divided into two families: the Na+-dependent solute carrier family 28 (SLC28) and the equilibrative solute carrier family 29 (SLC29). SLC28 family transporters (CNT1, 2 and 3) display subtype-selective tissue expression patterns.