Increases in amount during brain development coincident with synaptogenesis.
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.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Phosphorylated. Phosphorylation is EPHA4 kinase activity-dependent (By similarity).
In neurons in brain regions that are involved in learning and memory processes.
Proteins
53172Da
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ab229929