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 Retraction Syndrome 1. Among its related pathways are G12-G13 in Cellular Signaling and Actin Nucleation by ARP-WASP Complex. 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.