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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.
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Excitatory neurons, Astrocytes, Oligodendrocyte precursor cells, Inhibitory neurons, Microglial cells)

Immune cell specificity

Group enriched (T-reg, memory CD4 T-cell, memory CD8 T-cell)

Cell line specificity

Cell line enhanced (BJ hTERT+)

Interaction

Interacts with EPHA4; effector of EPHA4 in axon guidance linking EPHA4 activation to RAC1 regulation.

Molecular function

GTPase activation

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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