SLC9A3 gene

solute carrier family 9 member A3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]

From UniProt:

Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient (PubMed:26358773). Plays an important role in signal transduction.

From NCBI Gene:

  • Diarrhea 8, secretory sodium, congenital

From UniProt:

Diarrhea 8, secretory sodium, congenital (DIAR8): A disease characterized by watery secretory diarrhea with prenatal onset, prominent abdominal distension after birth due to dilated fluid-filled loops of intestine, elevated fecal sodium concentrations and low urinary sodium concentrations. [MIM:616868]

Cytogenetic Location: 5p15.3, which is the short (p) arm of chromosome 5 at position 15.3

Molecular Location: base pairs 471,986 to 524,434 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5p15.3, which is the short (p) arm of chromosome 5 at position 15.3
  • DIAR8
  • NHE-3
  • NHE3