SLC26A7
Description
The SLC26A7 (solute carrier family 26 member 7) is a protein-coding gene located on chromosome 8.
SLC26A7 is a human gene that encodes an anion exchange transporter protein. This gene belongs to a family of sulfate/anion transporter genes, sharing conserved genomic and protein structures across species, but with distinct tissue expression patterns. SLC26A7 is predominantly expressed in the kidney. Multiple splice variants have been identified for this gene, resulting from alternative transcription initiation and polyadenylation sites.
SLC26A7 acts as an anion channel, mediating the transport of chloride, sulfate and oxalate ions (PMID:11834742). It also facilitates the transport of bromide, iodide, nitrate, gluconate, thiocyanate and bicarbonate ions (by similarity). Its permeability towards bicarbonate is weak, increasing when the pH is above 7 (by similarity). SLC26A7 mediates thiocyanate transport in retinal pigment epithelium cells (by similarity) and iodide transport in the thyroid gland, playing a crucial role in thyroid hormone synthesis and thyroid function maintenance (PMID:31372509). Notably, despite being an anion channel, SLC26A7 has been shown to exhibit chloride-bicarbonate exchanger activity (PMID:12736153, PMID:32119864).
SLC26A7 is also known as SUT2.
Associated Diseases
- congenital hypothyroidism
- type 1 diabetes mellitus
- thyroid hormone metabolism, abnormal, 3
- hypothyroidism, congenital, nongoitrous
- hypothyroidism due to TSH receptor mutations
- familial hyperthyroidism due to mutations in TSH receptor
- glycogen storage disease due to glycogen branching enzyme deficiency
- thyroid hormone metabolism, abnormal 1
