CHN1

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]

Chimerin 1

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.

Ephrin receptor signaling pathway Source: UniProtKB
Intracellular signal transduction Source: InterPro
Motor neuron axon guidance Source: UniProtKB
Regulation of axonogenesis Source: UniProtKB
Regulation of GTPase activity Source: GO_Central
Regulation of small GTPase mediated signal transduction Source: Reactome

Cytosol

Duane retraction syndrome 2 (DURS2): A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision.

Phosphorylated. Phosphorylation is EPHA4 kinase activity-dependent (By similarity).