Defective SLC6A5 does not cotransport Gly, Cl-, Na+ from extracellular region to cytosol

Stable Identifier
Reaction [transition]
Homo sapiens
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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).
Literature References
PubMed ID Title Journal Year
16884688 Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia

Gomeza, J, Eulenburg, V, Schmitt, B, Becker, CM, Becker, K, Betz, H

Biochem. Biophys. Res. Commun. 2006
16751771 Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

Rees, MI, Smart, TG, Zuberi, SM, Thomas, P, Owen, MJ, Chung, SK, Abbott, KJ, Tijssen, MA, Shiang, R, Supplisson, S, van den Maagdenberg, AM, Armstrong, L, Harvey, K, Duguid, IC, Harvey, RJ, Beatty, S, Pearce, BR, Graham, GE, Stephenson, JB

Nat Genet 2006
Catalyst Activity

glycine:sodium symporter activity of SLC6A5 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC6A5 mutants [plasma membrane]

Name Identifier Synonyms
brain disease DOID:936 encephalopathy
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