ARHGEF9 gene

Cdc42 guanine nucleotide exchange factor 9

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Early infantile epileptic encephalopathy 8

From UniProt:

Epileptic encephalopathy, early infantile, 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. [MIM:300607]

Cytogenetic Location: Xq11.1, which is the long (q) arm of the X chromosome at position 11.1

Molecular Location: base pairs 63,634,967 to 63,786,025 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq11.1, which is the long (q) arm of the X chromosome at position 11.1
  • COLLYBISTIN
  • EIEE8
  • HPEM-2
  • PEM-2
  • PEM2