SLC4A4 gene

solute carrier family 4 member 4

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

From NCBI Gene:

This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

From UniProt:

Isoform 2: May have a higher activity than isoform 1.

Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH.

From NCBI Gene:

  • Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation

From UniProt:

Loss of interaction with and stimulation by CA4 is the cause of retinitis pigmentosa type 17 (RP17).

Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA): An extremely rare autosomal recessive syndrome characterized by short stature, profound proximal renal tubular acidosis, mental retardation, bilateral glaucoma, cataracts and bandkeratopathy. pRTA is due to a failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent acidemia. [MIM:604278]

Cytogenetic Location: 4q21, which is the long (q) arm of chromosome 4 at position 21

Molecular Location: base pairs 71,187,286 to 71,572,087 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q21, which is the long (q) arm of chromosome 4 at position 21
  • hhNMC
  • HNBC1
  • KNBC
  • kNBC1
  • NBC1
  • NBC2
  • NBCe1-A
  • pNBC
  • SLC4A5