3cxl: Difference between revisions
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{{STRUCTURE_3cxl| PDB=3cxl | SCENE= }} | {{STRUCTURE_3cxl| PDB=3cxl | SCENE= }} | ||
===Crystal structure of human chimerin 1 (CHN1)=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/CHIN_HUMAN CHIN_HUMAN]] Defects in CHN1 are the cause of Duane retraction syndrome type 2 (DURS2) [MIM:[http://omim.org/entry/604356 604356]]. Duane retraction syndrome is 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, and 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. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/CHIN_HUMAN CHIN_HUMAN]] 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. | |||
==About this Structure== | ==About this Structure== | ||