SLC4A3


Description

The SLC4A3 (solute carrier family 4 member 3) is a protein-coding gene located on chromosome 2.

SLC4A3 encodes Anion exchange protein 3 (AE3), a membrane transport protein functionally similar to Band 3 Cl−/HCO3− exchange protein, but primarily expressed in brain neurons and the heart. Like AE2, its activity is sensitive to pH. AE3 forms a homodimer, similar to AE1 and AE2, and its resting state is in an outward-facing conformation, making it susceptible to DIDS (4,4-diisothiocyanatostilbene-2,2'-disulfonic acid), a pan-inhibitor of anion transporters. Mutations in SLC4A3 have been associated with seizures.

SLC4A3 is also known as AE3, CAE3/BAE3, SLC2C, SQT7.

Associated Diseases


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