background:
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]
Function:
GTPase-activating protein for p21-rac and a phorbol ester receptor. May play an important role in neuronal signal-transduction mechanisms.
Subunit:
Interacts with EPHA4; effector of EPHA4 in axon guidance linking EPHA4 activation to RAC1 regulation
Tissue Specificity:
In neurons in brain regions that are involved in learning and memory processes.
DISEASE:
Defects in CHN1 are the cause of Duane retraction syndrome type 2 (DURS2) [MIM: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.
Similarity:
Contains 1 phorbol-ester/DAG-type zinc finger.
Contains 1 Rho-GAP domain.
Contains 1 SH2 domain.
Database links:
Entrez Gene: 1123 Human
Entrez Gene: 108699 Mouse
Entrez Gene: 16830 Rat
Omim: 118423 Human
SwissProt: P15882 Human
SwissProt: Q91V57 Mouse
SwissProt: P30337 Rat
Unigene: 380138 Human
Unigene: 475464 Mouse
Unigene: 11166 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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