Gene Symbol | CHN1 |
Entrez Gene ID | 1123 |
Full Name | chimerin 1 |
Synonyms | ARHGAP2,CHN,DURS2,NC,RHOGAP2 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Duane retraction syndrome 2, 604356 (3) |