Orphanet: Cdc42 guanine nucleotide exchange factor 9

Search for a gene

ARHGEF9 - Cdc42 guanine nucleotide exchange factor 9

Synonym(s) : collybistin, KIAA0424, PEM-2
Previous symbols and names : Cdc42 guanine nucleotide exchange factor (GEF) 9
Type : gene with protein product
Chromosomal location : Xq11.1
OMIM: 300429
HGNC: 14561
UniProtKB: O43307
Genatlas: ARHGEF9
Ensembl: ENSG00000131089
IUPHAR-DB: -
Reactome: O43307
LOVD: ARHGEF9

Diseases list

Disease-causing germline mutation(s) (loss of function) in Hyperekplexia-epilepsy syndrome ORPHA:163985

: Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Health care resources for this gene

Diagnostic tests (59)

Research activities on this gene

Specialised Social Services

Eurordis directory

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.