DefinitionThis section has been translated automatically.
The SLC17A9 gene (SLC17A9 stands for Solute Carrier Family 17 Member 9) is a protein coding gene located on chromosome 20q13.33. This gene encodes a member of a family of transmembrane proteins involved in the transport of small molecules. The encoded protein is involved in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. This leads to the accumulation of ATP and other nucleotides in secretory vesicles such as chromaffin granules of the adrenal gland and the synaptic vesicles.
An important paralog of this gene is SLC17A5.
A mutation in this gene has been found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8 (see porokeratoses below).
