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

Stable Identifier
R-HSA-5660840
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
16751771 Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

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

Nat Genet 2006
16884688 Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia

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

Biochem. Biophys. Res. Commun. 2006
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
glycine:sodium symporter activity of SLC6A5 mutants [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
brain disease 936 encephalopathy
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