rho guanine nucleotide exchange factor 9 isoform 1 [Homo sapiens]

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ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration. [Mol Genet Genomic Med. 2022]
ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.
Yang H, Liao H, Gan S, Xiao T, Wu L. Mol Genet Genomic Med. 2022 Jul; 10(7):e1967. Epub 2022 May 31.
Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA(A) receptor α2 subunit. [Mol Psychiatry. 2022]
Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA(A) receptor α2 subunit.
Hines DJ, Contreras A, Garcia B, Barker JS, Boren AJ, Moufawad El Achkar C, Moss SJ, Hines RM. Mol Psychiatry. 2022 Mar; 27(3):1729-1741. Epub 2022 Feb 15.
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder. [Hum Mutat. 2021]
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.
Ghesh L, Besnard T, Nizon M, Trochu E, Landeau-Trottier G, Breheret F, Thauvin-Robinet C, Bruel AL, Kuentz P, Coubes C, et al. Hum Mutat. 2021 May; 42(5):498-505. Epub 2021 Mar 14.

RefSeq genomic sequence
See the genomic reference sequence for the ARHGEF9 gene (NG_016975.1).
RefSeq mRNA
See reference mRNA sequence for the ARHGEF9 gene (NM_015185.3).
RefSeq protein isoforms
See 27 reference sequence protein isoforms for the ARHGEF9 gene.

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NP_056000 [Domain Mapping of Disease Mut...]
NP_056000
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagents
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Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc

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