General description
The gene STXBP1 (syntaxin binding protein 1) is mapped to human chromosome 9q34.1. The encoded protein is 594 amino acids long, which is expressed in all tissues with highest levels in retina and cerebellum.
Immunogen
STXBP1 (NP_003156, 74 a.a. ~ 168 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Sequence
VYLITPSEKSVHSLISDFKDPPTAKYRAAHVFFTDSCPDALFNELVKSRAAKVIKTLTEINIAFLPYESQVYSLDSADSFQSFYSPHKAQMKNPI
Biochem/physiol Actions
The gene STXBP1 (syntaxin binding protein 1) encodes a regulatory protein of the components of the SNARE (soluble NSF/ N-ethylmaleimide-sensitive factor attachment protein receptor) complex that are crucial for neurotransmission. It is a neuronal protein that functions in synaptic vesicle release. Mutations in this gene have been associated with early infantile epileptic encephalopathy. It causes autosomal dominant mental retardation and nonsyndromic epilepsy.
Physical form
Solution in phosphate buffered saline, pH 7.4
Legal Information
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Disclaimer
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| biological source | mouse |
| Quality Level | 100 |
| conjugate | unconjugated |
| antibody form | purified immunoglobulin |
| antibody product type | primary antibodies |
| clone | 6D1, monoclonal |
| form | buffered aqueous solution |
| species reactivity | human, mouse, rat |
| technique(s) | immunohistochemistry (formalin-fixed, paraffin-embedded sections): suitable,indirect ELISA: suitable,western blot: 1-5 μg/mL |
| isotype | IgG2aκ |
| GenBank accession no. | NM_003165 |
| UniProt accession no. | P61764 |
| shipped in | dry ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... STXBP1(6812) |
