SLC17A9
Description
The SLC17A9 (solute carrier family 17 member 9) is a protein-coding gene located on chromosome 20.
SLC17A9 gene encodes a protein involved in the transport of small molecules, specifically participating in the vesicular uptake, storage, and secretion of ATP and other nucleotides. Mutations in this gene are linked to autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing leads to multiple transcript variants.
SLC17A9 acts as a voltage-gated uniporter, primarily transporting ATP but also capable of carrying ADP and GTP. This transporter leverages membrane potential to regulate ATP accumulation within lysosomes and secretory vesicles. It plays a crucial role in controlling ATP storage in lysosomes, ultimately impacting the function of ATP-dependent proteins within these organelles. Additionally, SLC17A9 indirectly regulates ATP exocytosis by influencing its import into lysosomes in astrocytes and various secretory vesicles, including adrenal chromaffin granules, mucin granules, and synaptic vesicles.
SLC17A9 is also known as C20orf59, POROK8, VNUT.
Associated Diseases
- Disseminated superficial actinic porokeratosis
- Porokeratosis 8, disseminated superficial Actinic type
