The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| STXBP5L-20-RE | 20 (40 μL) | 200 μL |  |
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| STXBP5L-20-OR | 20 (40 μL) | 200 μL |  |
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| STXBP5L-20-GO | 20 (40 μL) | 200 μL |  |
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| STXBP5L-20-GR | 20 (40 μL) | 200 μL |  |
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| STXBP5L-20-AQ | 20 (40 μL) | 200 μL |  |
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The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]
Gene Symbol : STXBP5L
Gene Name : Syntaxin binding protein 5 like
Chromosome : CHR 3: 120,908,202-121,424,760
Locus : 3q13.33
Alt. Genes : PREB
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