Defective SLC24A1 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+

Stable Identifier
Reaction [transition]
Homo sapiens
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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).
Literature References
PubMed ID Title Journal Year
20850105 A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

Hejtmancik, JF, Khan, SN, Ponferrada, VG, Husnain, T, Riazuddin, SA, Audo, I, Zeitz, C, Zafar, AU, Shahzadi, A, Ayyagari, R, Lancelot, ME, Jiao, X, Sieving, PA, MacDonald, IM, Katsanis, N, Nasir, IA, Ahmed, ZM, Michiels, C, Riazuddin, S, Chavali, VR

Am. J. Hum. Genet. 2010
Catalyst Activity

calcium, potassium:sodium antiporter activity of SLC24A1 F538Cfs*23 [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC24A1 F538Cfs*23 [plasma membrane]

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