SLC5A7
Chr 2ARADsolute carrier family 5 member 7
Also known as: CHT, CHT1, CMS20, DHMNVP, HMN7A, HMND7, hCHT1
This protein functions as a sodium- and chloride-dependent high-affinity choline transporter that mediates choline uptake into presynaptic cholinergic terminals for acetylcholine synthesis. Mutations cause congenital myasthenic syndrome type 20 (presynaptic) with autosomal recessive inheritance and distal hereditary motor neuronopathy type VIIA with autosomal dominant inheritance. The pathogenic mechanism involves gain-of-function effects that disrupt normal cholinergic neurotransmission.
Moderate evidence — consider for supplementary testing
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
SLC5A7 · 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