SLC6A5

Chr 11ADAR

solute carrier family 6 member 5

Also known as: GLYT-2, GLYT2, HKPX3, NET1

NCBI Gene: 9152 ENSG00000165970 UniProt: Q9Y345 OMIM: 604159

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hyperekplexia 3MIM #614618

ADAR

Clinical highlights

Gene-disease validity (ClinGen)

hyperekplexia 3 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.97

LOEUF

LOF

Mechanism· G2P

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GeneReview available — SLC6A5