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Gene : ARHGEF9 Homo sapiens

Name  ? Cdc42 guanine nucleotide exchange factor 9 Cytological Location  Xq11.1
Brief Description  Cdc42 guanine nucleotide exchange factor 9
Description  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. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
  • synonyms:
  • NM_001173479,
  • HGNC:14561,
  • COLLYBISTIN,
  • PEM-2,
  • HPEM-2,
  • Cdc42 guanine nucleotide exchange factor (GEF) 9,
  • PEM2,
  • PEM-2,
  • collybistin,
  • uc064zpi.1,
  • KIAA0424,
  • ARHGEF9,
  • AB007884,
  • OTTHUMG00000021700,
  • EIEE8
  • identifiers:
  • 23229,
  • ENSG00000131089,
  • ARHGEF9

Genome feature

Region: gene ? Length: 150580  
Location: X:63634967-63785546 reverse strand Cyto location: Xq11.1


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Disease

1 Diseases

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88 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results