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

Stable Identifier
R-HSA-5625841
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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

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
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
calcium, potassium:sodium antiporter activity of SLC24A1 F538Cfs*23 [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
congenital stationary night blindness 0050534
Authored
Reviewed
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