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B001/B101
Shirley, MA 01464
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20700 44th Avenue W
Lynnwood, WA 98036
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Spastic / GLRB
glycine receptor, beta
Spastic / GLRB is the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. Mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants.
| Gene Name: | glycine receptor, beta |
| Family/Subfamily: | Ion Channel , Glycine receptor |
| Synonyms: | GLRB, Glycine receptor, beta, Glycine receptor, beta subunit, Glyr beta, HKPX2, Glycine receptor beta, Glycine receptor subunit beta, Spastic |
| Target Sequences: | NM_000824 NP_000815.1 P48167 |
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