Gene Symbol | Arx |
Entrez Gene ID | 11878 |
Full Name | aristaless related homeobox |
General protein information |
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Gene Type | protein-coding |
Organism | Mus musculus(house mouse) |
Genome | |
Summary | This gene encodes a transcription factor that plays an important role in the development of forebrain. Male mice lacking this gene have smaller brains, olfactory bulbs and testes, and die within half a day after birth. Mice lacking this gene specifically in ganglionic eminence-derived neurons, including cortical interneurons, develop seizures. Mutations in this gene have been demonstrated to cause mouse phenotypes resembling human X-linked lissencephaly and cognitive disability with epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. |