Solute Carrier Family 4 (SLC4A4) Human Recombinant Protein

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]

SLC4A4: 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. Defects in SLC4A4 are the cause of proximal renal tubular acidosis with ocular abnormalities (pRTA-OA); also known as renal tubular acidosis II. Caused by an impairment of bicarbonate absorption in the proximal tubule, proximal renal tubular acidosis (pRTA) is characterized by a decreased renal HCO3(-) threshold. pRTA-OA is an extremely rare autosomal recessive syndrome characterized by short stature, profound pRTA, mental retardation, bilateral glaucoma, cataracts and bandkeratopathy. Loss of interaction with and stimulation by CA4 is the cause of retinitis pigmentosa type 17 (RP17). Belongs to the anion exchanger (TC 2.A.31) family. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Transporter; Transporter, SLC family; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 4q21

Cellular Component: basolateral plasma membrane; integral to plasma membrane; plasma membrane

Molecular Function: protein binding; inorganic anion exchanger activity; sodium:bicarbonate symporter activity

Biological Process: transport; bicarbonate transport; regulation of intracellular pH; ion transport; transmembrane transport

Disease: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation