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The deletion of NCKX1 in mice results in malformed outer segment disks, suppressed expression and function of rod cGMP-gated channels and a subsequent 100-fold reduction in rod responses, while preserving normal cone responses.
We report the association of many previously unreported variants with retinal disease, as well as new disease phenotypes associated with known genes, including the first association of the SLC24A1 gene with retinitis pigmentosa
The index patient and his affected brother carry a homozygous single-nucleotide variants (SNVs) in sodium-calcium, potassium exchanger (SLC24A1) (c.2401G > T).
A mutation in SLC24A1 is implicated in autosomal-recessive congenital stationary night blindness.
This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
sodium/potassium/calcium exchanger 1
, solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
, sodium/potassium/calcium exchanger 1-like
, Na(+)/K(+)/Ca(2+)-exchange protein 1
, retinal rod Na+/Ca+/K+ exchanger
, retinal Na/Ca,K exchanger
, retinal rod Na-Ca+K exchanger
, sodium/calcium/potassium exchanger
, solute carrier family 24, member 1
, potassium-dependent socium-calcium exchanger