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

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R-HSA-5619077
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Homo sapiens
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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 (Schnetkamp 2013). 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 (Riazuddin et al. 2010).

Literature References
PubMed ID Title Journal Year
23506883 The SLC24 gene family of Na?/Ca²?-K? exchangers: from sight and smell to memory consolidation and skin pigmentation

Schnetkamp, PP

Mol. Aspects Med. 2013
20850105 A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

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

Am. J. Hum. Genet. 2010
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