NP_001166950.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
60,982 Da
NCBI Official Full Name
rho guanine nucleotide exchange factor 9 isoform 2
NCBI Official Synonym Full Names
Cdc42 guanine nucleotide exchange factor (GEF) 9
NCBI Official Synonym Symbols
PEM2; EIEE8; PEM-2; HPEM-2; COLLYBISTIN [Similar Products]
NCBI Protein Information
rho guanine nucleotide exchange factor 9; PEM-2 homolog; hPEM-2 collybistin; rac/Cdc42 guanine nucleotide exchange factor 9
UniProt Protein Name
Rho guanine nucleotide exchange factor 9
UniProt Synonym Protein Names
Collybistin; PEM-2 homolog; Rac/Cdc42 guanine nucleotide exchange factor 9
UniProt Synonym Gene Names
UniProt Entry Name
ARHG9_HUMAN
NCBI Summary for ARHGEF9
The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
UniProt Comments for ARHGEF9
ARHGEF9: Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters. Defects in ARHGEF9 are the cause of pileptic encephalopathy, early infantile, type 8 (EIEE8). A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: GAPs; GAPs, Rac/Rho
Chromosomal Location of Human Ortholog: Xq11.1
Cellular Component: cytoplasm; cytosol
Molecular Function: Rho guanyl-nucleotide exchange factor activity
Biological Process: synaptic transmission; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; positive regulation of apoptosis; small GTPase mediated signal transduction; transmembrane transport
Disease: Epileptic Encephalopathy, Early Infantile, 8
Research Articles on ARHGEF9
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Products associated with anti-ARHGEF9 antibody
Pathways associated with anti-ARHGEF9 antibody
Diseases associated with anti-ARHGEF9 antibody
Organs/Tissues associated with anti-ARHGEF9 antibody
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