SLC12A6
Chr 15ARADsolute carrier family 12 member 6
Also known as: ACCPN, CMT2II, KCC3, KCC3A, KCC3B
This gene encodes a potassium-chloride cotransporter that maintains cellular chloride concentrations and contributes to cell volume regulation by mediating electroneutral ion transport when cells swell. Mutations cause agenesis of the corpus callosum with peripheral neuropathy and Charcot-Marie-Tooth disease type 2II, inherited in both autosomal recessive and autosomal dominant patterns. The gene is highly intolerant to loss-of-function variants (LOEUF 0.395), indicating that complete protein loss is likely deleterious.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC12A6 · 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