RecName: Full=Brefeldin A-inhibited guanine nucleotide-exchange protei - Protein

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Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. [Genet Med. 2021]
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, et al. Genet Med. 2021 Oct; 23(10):1901-1911. Epub 2021 Jun 10.
BIG1 controls macrophage pro-inflammatory responses through ARF3-mediated PI(4,5)P2 synthesis. [Cell Death Dis. 2020]
BIG1 controls macrophage pro-inflammatory responses through ARF3-mediated PI(4,5)P2 synthesis.
Liu L, Zhang S, Wang Y, Bao W, Zhou Y, Dang W, Wang X, Li H, Cao X, You Y, et al. Cell Death Dis. 2020 May 15; 11(5):374. Epub 2020 May 15.
Effect of protein kinase A on accumulation of brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1) in HepG2 cell nuclei. [Proc Natl Acad Sci U S A. 2006]
Effect of protein kinase A on accumulation of brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1) in HepG2 cell nuclei.
Citterio C, Jones HD, Pacheco-Rodriguez G, Islam A, Moss J, Vaughan M. Proc Natl Acad Sci U S A. 2006 Feb 21; 103(8):2683-8. Epub 2006 Feb 8.

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Q9Y6D6 [Domain Mapping of Disease Mut...]
Q9Y6D6
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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Reactome [Reactome]
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reagents [ExactAntigen/Labome]
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RecName: Full=Brefeldin A-inhibited guanine nucleotide-exchange protein 1; Short...
RecName: Full=Brefeldin A-inhibited guanine nucleotide-exchange protein 1; Short=Brefeldin A-inhibited GEP 1; AltName: Full=ADP-ribosylation factor guanine nucleotide-exchange factor 1; AltName: Full=p200 ARF guanine nucleotide exchange factor; AltName: Full=p200 ARF-GEP1
gi|116241267|sp|Q9Y6D6.2|BIG1_HUMAN

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