Reaction: Defective SLC24A1 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+
SLC24A1 encodes an exchanger protein NCKX1 which is the most extensively studied SLC24 member and is highly expressed in the eye. All family members are able to exchange one Ca2+ and one K+ for four Na+. 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. CSNB1D can be caused by the frameshift mutation F538Cfs*23. It resides in the fourth transmembrane that is one of two proposed ion exchanger domains of SLC24A1 (Riazuddin et al. 2010).
Reaction - small molecule participants:
K+ [cytosol]
Ca2+ [cytosol]
Na+ [extracellular region]
Reactome.org reaction link: R-HSA-5625841
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Reaction input - small molecules:
potassium(1+)
calcium(2+)
sodium(1+)
Reaction output - small molecules:
Reactome.org link: R-HSA-5625841