DefinitionThis section has been translated automatically.
The SLC29A3 gene (SLC29A3 stands for "Solute Carrier Family 29 Member 3") is a protein coding gene located on chromosome 10q22.1. Alternatively spliced transcript variants have been described.
General informationThis section has been translated automatically.
The SLC29A3 gene encodes a nucleoside transporter. The encoded protein plays a role in the cellular uptake of nucleosides, nucleobases and their related analogs. The encoded protein mediates both the influx and efflux of nucleosides across the membrane (known as an equilibrative transporter). It mediates the transport of adenine, adenosine, and uridine, as well as various nucleoside analogs, such as also oncologics and antiviral agents, including cladribine, cordycepin, tubercidin, and AZT.
Related metabolic pathways include transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, and transport of vitamins, nucleosides and related molecules.
Mutations in this gene have been associated with "histiocytosis-lymphadenopathy-plus syndrome" also called "H syndrome", characterized by hyperpigmentation of the skin, hypertrichosis, hepatosplenomegaly, cardiac abnormalities and hypogonadism. "PHID syndrome" (pigmented hypertrichosis with insulin-dependent diabetes mellitus) has also been associated with mutations at this locus (probably not a separate entity).
Related disorders include Rosai-Dorfman syndrome.
Note(s)This section has been translated automatically.
Nucleoside transporters are divided into two families:
- Na+-dependent solute carrier family 28 (SLC28; SLC28 family transporters -CNT1, 2, and 3- exhibit subtype-selective tissue expression patterns.
- and
- the equilibrative solute carrier family 29 (SLC29).
