Aliases for CHN1 Gene
External Ids for CHN1 Gene
Previous HGNC Symbols for CHN1 Gene
Previous GeneCards Identifiers for CHN1 Gene
This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
GeneCards Summary for CHN1 Gene
CHN1 (Chimerin 1) is a Protein Coding gene. Diseases associated with CHN1 include Duane Retraction Syndrome 2 and Duane Syndrome Type 2. Among its related pathways are Signaling by Rho GTPases and Regulation of RAC1 activity. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and ephrin receptor binding. An important paralog of this gene is CHN2.
UniProtKB/Swiss-Prot for CHN1 Gene
GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal locomotor circuits as a direct effector of EPHA4 in axon guidance.