SLC24A1 Back

solute carrier family 24 (sodium/potassium/calcium exchanger), member 1

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NCBI Description of SLC24A1
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.

Community Annotation of SLC24A1 Add / Edit SLC24A1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

SLC24A1 is highly significantly mutated in
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SLC24A1 is significantly mutated in
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SLC24A1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for SLC24A1