SLC24A3

Chr 20

solute carrier family 24 member 3

Also known as: NCKX3

NCBI Gene: 57419 ENSG00000185052 UniProt: Q9HC58 OMIM: 609839

The SLC24A3 protein is a plasma membrane calcium, potassium:sodium antiporter that transports 1 calcium and 1 potassium ion in exchange for 4 sodium ions, maintaining intracellular calcium homeostasis and supporting electrical conduction. Mutations cause autosomal recessive congenital stationary night blindness, a retinal disorder affecting vision in low-light conditions. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely not tolerated.

OMIM ResearchSummary from RefSeq, UniProt

Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.35

LOEUF

Multiple*

Mechanism· predicted