Defective SLC6A5 causes hyperekplexia 3 (HKPX3)

Stable Identifier
R-HSA-5619089
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Defective SLC6A5 causes hyperekplexia 3 (HKPX3)
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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) (Broer & Gether 2012, Schweikhard & Ziegler 2012). 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. Sometimes symptoms resolve in the first year of life (Bode & Lynch 2014, James et al. 2012).
Literature References
PubMed ID Title Journal Year
22114948 Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease

James, VM, Harvey, RJ, Topf, M, Gill, JL

Biol. Chem. 2012
22519513 The solute carrier 6 family of transporters

Gether, U, Broer, S

Br. J. Pharmacol. 2012
23177982 Amino acid secondary transporters: toward a common transport mechanism

Schweikhard, ES, Ziegler, CM

Curr Top Membr 2012
24405574 The impact of human hyperekplexia mutations on glycine receptor structure and function

Bode, A, Lynch, JW

Mol Brain 2014
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Disease
Name Identifier Synonyms
brain disease DOID:936 encephalopathy
Cross References
BioModels Database
Authored
Jassal, B  (2014-08-22)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-08-22)
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