SLC6A5
Chr 11ADARsolute carrier family 6 member 5
Also known as: GLYT-2, GLYT2, HKPX3, NET1
This gene encodes a sodium- and chloride-dependent glycine transporter that terminates glycinergic neurotransmission by reuptaking glycine into presynaptic terminals. Mutations cause hyperekplexia 3, a neurological disorder characterized by exaggerated startle responses and neonatal apnea. The condition follows both autosomal dominant and autosomal recessive inheritance patterns.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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
SLC6A5 · 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
External Resources
Links to major genomics databases and tools