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Details on Person SLC24A1 encodes an exchanger protein NCKX1 which is the most...

Class:IdSummation:5625838
_displayNameSLC24A1 encodes an exchanger protein NCKX1 which is the most...
_timestamp2014-10-09 08:58:32
created[InstanceEdit:5625839] Jassal, Bijay, 2014-10-08
modified[InstanceEdit:5626263] Jassal, Bijay, 2014-10-09
textSLC24A1 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).
(summation)[FailedReaction:5625841] Defective SLC24A1 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+ [Homo sapiens]
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