| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Rho guanine nucleotide exchange factor 9
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| http://www.biopax.org/relea... |
ARHG9_HUMAN
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| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Collybistin,
PEM-2 homolog,
Rac/Cdc42 guanine nucleotide exchange factor 9
|
| http://www.biopax.org/relea... |
FUNCTION: Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters. SUBUNIT: Interacts with GPHN. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Detected in brain. Detected at low levels in heart. DISEASE: Defects in ARHGEF9 are a cause of startle disease with epilepsy (STHEE) [MIM:300607]; also known as hyperekplexia with epilepsy. Startle disease is a genetically heterogeneous neurologic disorder. STHE is characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. SIMILARITY: Contains 1 DH (DBL-homology) domain. SIMILARITY: Contains 1 PH domain. SIMILARITY: Contains 1 SH3 domain. SEQUENCE CAUTION: Sequence=BAA24854.2; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ARHGEF9"; GENE SYNONYMS: KIAA0424. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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