Arx - aristaless related homeobox Gene
Also Known as Arx1
Species: Mus musculus
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]
Arx Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001305940.1 | NP_001292869.1 | homeobox protein ARX |
| NM_007492.4 | NP_031518.2 | homeobox protein ARX |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription repressor activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
15930104 | MGI |
| enables RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
15930104 | MGI |
| enables chromatin binding |
IDA
IDA: Inferred from direct assay
|
21966449 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
homeobox protein ARX |
|