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DEE8

Chr XX-linked

Cdc42 guanine nucleotide exchange factor 9

Also known as: COLLYBISTIN, DEE8, EIEE8, HPEM-2, PEM-2, PEM2

NCBI Gene: 23229 OMIM: 300607

This X-linked gene encodes a brain-specific Rho-like GTPase that regulates CDC42 and acts as an adaptor protein with gephyrin to facilitate GABA and glycine receptor recruitment at synapses. Mutations cause developmental and epileptic encephalopathy 8, which can present with startle disease (hyperekplexia) and epilepsy along with cognitive disability. The X-linked inheritance pattern means affected males are more severely impacted than carrier females.

OMIM ResearchSummary from RefSeq, OMIM

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]

OMIM ResearchGenerating clinical summary…

X-linked1 OMIM phenotype

Clinical Summary— DEE8

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/DEE8?content-type=application/json&expand=1

gnomad: Error: Gene not found