SLC24A5
Chr 15ARsolute carrier family 24 member 5
Also known as: JSX, NCKX5, OCA6, SHEP4
The protein functions as a calcium, potassium:sodium antiporter that transports calcium and potassium into melanosomes in exchange for cytoplasmic sodium, serving as the predominant sodium-calcium exchanger in melanocytes. Mutations cause oculocutaneous albinism type VI and variations in skin/hair/eye pigmentation, inherited in an autosomal recessive pattern. The gene shows high tolerance to loss-of-function variants (low constraint), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC24A5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools