Syntaxin-binding protein 1 (also known as Munc18-1) is a protein that in humans is encoded by the STXBP1 gene.[5] This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with neurological disorders including epilepsy, intellectual disability, and movement disorders.[6][7][8][9]
^ abcGRCh38: Ensembl release 89: ENSG00000136854 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000026797 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Swanson DA, Steel JM, Valle D (March 1998). "Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release". Genomics. 48 (3): 373–376. doi:10.1006/geno.1997.5202. PMID 9545644.
^"Entrez Gene: STXBP1 syntaxin binding protein 1". Retrieved 2018-08-29. This article incorporates text from this source, which is in the public domain.
^Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, et al. (March 2016). "STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy". Neurology. 86 (10): 954–962. doi:10.1212/WNL.0000000000002457. hdl:10067/1331590151162165141. PMID 26865513. S2CID 26206858.
^Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, et al. (July 2022). "Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood". Neurology. 99 (3): e221–e233. doi:10.1212/WNL.0000000000200715. PMC 9302932. PMID 35851549.
^Spaull, R; Steel, D; Barwick, K; Prabhakar, P; Wakeling, E; Kurian, MA (2022-07-23). "STXBP1 Stop-Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy". Movement Disorders Clinical Practice. 9 (6): 837–840. doi:10.1002/mdc3.13509. hdl:1983/6fcc0c91-524a-4455-8291-61c09eea4332. ISSN 2330-1619. PMC 9346254. PMID 35937496.
(also known as Munc18-1) is a protein that in humans is encoded by the STXBP1 gene. This gene encodes a syntaxin-binding protein. The encoded protein...
since 2023. In 2022, she cofounded Flourish, a fundraising platform for the STXBP1 Foundation. Finn was raised in Grosse Pointe, Michigan. She earned a B.F...
Febrile Seizures Plus (GEFS+), as well as in some Dravet syndrome patients. - STXBP1: This gene encodes the syntaxin-binding protein 1, which is involved in...
syndrome. It can be associated with mutations in ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, KCNQ2, ARHGEF9, PCDH19, PNKP, SCN2A, PLCB1, SCN8A, ST3GAL3, TBC1D24...
Ogata, K; Matsumoto, N (2008). "De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy". Nature Genetics...
to test if phenylbutyrate is safe and well tolerated in children with STXBP1 encephalopathy and SLC6A1 neurodevelopmental disorder. Pre-clinical and...
mesenchymal interfaces. STX2 has been shown to interact with SNAP-25, SNAP23, STXBP1 and Syntaxin binding protein 3. GRCh38: Ensembl release 89: ENSG00000111450...
has been shown to interact with: Gelsolin, NAPA, RAB4A, SNAP-25, SNAP23, STXBP1, STXBP5, Syntaxin binding protein 3, TXLNB, VAMP2, VAMP3, and Vesicle-associated...
Tohyama J, et al. (June 2008). "De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy". Nature Genetics...
Bonati MT, Marchi M, Cracco I, et al. (July 2019). "Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like...
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