Reaction: Defective SLC6A5 does not cotransport Gly, Cl-, Na+ from extracellular region to cytosol
- in pathway: Defective SLC6A5 causes hyperekplexia 3 (HKPX3)
The amino acid glycine (Gly) plays an important role in neurotransmission. Its action is terminated by rapid re-uptake into the pre-synaptic terminal or surrounding glial cells. This re-uptake is mediated by the sodium- and chloride-dependent glycine transporters 1 and 2 (GLYT1 and GLYT2 respectively). GLYT2 is encoded by the human gene SLC6A5 and is predominantly expressed in the medulla. Defects in SLC6A5 cause startle disease (STHE or hyperekplexia (HKPX3; MIM:614618)), a neurologic disorder characterised by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea. Mutations causing HKPX3 include S510R, V432F, T425M and Y377* (Rees et al. 2006, Eulenburg et al. 2006).
Reaction - small molecule participants:
Cl- [extracellular region]
Gly [extracellular region]
Na+ [extracellular region]
Reactome.org reaction link: R-HSA-5660840
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Reaction input - small molecules:
chloride
glycine zwitterion
sodium(1+)
Reaction output - small molecules:
Reactome.org link: R-HSA-5660840