Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)

Five members of the NCKX (SLC24) family are all able to exchange one Ca2+ and one K+ for four Na+. SLC24A1 encodes an exchanger protein NCKX1 which is the most extensively studied member and is highly expressed in the eye. The light-induced lowering of calcium by efflux via this protein plays a key role in the process of light adaptation. Defects in SLC24A1 can cause congenital stationary night blindness 1D (CSNB1D), an autosomal recessive, non-progressive retinal disorder characterised by impaired night vision and characterised by a Riggs-type of electroretinogram.

Summary from Reactome (R-HSA-5619077), read 2026-09-23.