Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
Article Details
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Eulenburg V, Becker K, Gomeza J, Schmitt B, Becker CM, Betz H
Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
Biochem Biophys Res Commun. 2006 Sep 22;348(2):400-5. Epub 2006 Jul 26.
- PubMed ID
- 16884688 [ View in PubMed]
- Abstract
Hereditary hyperekplexia is a neuromotor disorder characterized by exaggerated startle reflexes and muscle stiffness in the neonate. The disease has been associated with mutations in the glycine receptor subunit genes GLRA1 and GLRB. Here, we describe mutations within the neuronal glycine transporter 2 gene (GLYT2, or SLC6A5, ) of hyperekplexia patients, whose symptoms cannot be attributed to glycine receptor mutations. One of the GLYT2 mutations identified causes truncation of the transporter protein and a complete loss of transport function. Our results are consistent with GLYT2 being a disease gene in human hyperekplexia.
DrugBank Data that Cites this Article
- Drug Targets
Drug Target Kind Organism Pharmacological Action Actions Glycine Glycine receptor subunit alpha-1 Protein Humans UnknownLigandDetails Glycine Glycine receptor subunit beta Protein Humans UnknownLigandDetails - Drug Transporters
Drug Transporter Kind Organism Pharmacological Action Actions Glycine Sodium- and chloride-dependent glycine transporter 2 Protein Humans UnknownSubstrateDetails