SLC6A5 Back

solute carrier family 6 (neurotransmitter transporter, glycine), member 5

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NCBI Description of SLC6A5
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.

Community Annotation of SLC6A5 Add / Edit SLC6A5: Annotations

No community annotations yet for SLC6A5.
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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

SLC6A5 is highly significantly mutated in
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SLC6A5 is significantly mutated in
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SLC6A5 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for SLC6A5