SLC4A5

Description

The SLC4A5 (solute carrier family 4 member 5) is a protein-coding gene located on chromosome 2.

The SLC4A5 gene encodes a protein called Electrogenic sodium bicarbonate cotransporter 4 (NBCe2). This protein belongs to the sodium bicarbonate cotransporter (NBC) family and is involved in regulating the pH within cells. NBCe2 helps move sodium and bicarbonate ions across cell membranes, generating an electrical current in the process. This protein is thought to be embedded within cell membranes. The gene for NBCe2 has been linked to high blood pressure, as variations in its sequence have been associated with differences in blood pressure levels.

Mediates the transport of sodium and bicarbonate ions across cell membranes. The transporter operates electrogenically, meaning it generates an electrical current across the membrane. The ratio of sodium to bicarbonate ions transported can vary, with a typical range of 1:2 to 1:3.

SLC4A5 is also known as NBC4, NBCe2.

Associated Diseases

• retinitis pigmentosa
• X-linked retinal dysplasia
• familial idiopathic steroid-resistant nephrotic syndrome
• Leber congenital amaurosis
• severe early-childhood-onset retinal dystrophy
• familial hyperaldosteronism type III
• progressive bifocal chorioretinal atrophy
• Liddle syndrome
• Stargardt disease
• Dent disease