motifs/domains
| two independent repression domains: an N-terminal octapeptide motif/engrailed homology domain, necessary for Groucho-dependent repression activity  |
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a high overall GC content of 72.5p100 that codes for a multidomain protein, including the octapeptide domain, that binds DNA |
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three nuclear localization sequences |
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four polyalanine tracts (pA1-4) |
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two repression domains, the OP and a second domain located in the C-terminus at amino acids (398-448) of the protein, termed ORD (for other repression domain) |
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C-terminal Aristaless domain, a novel octapeptide motif/engrailed homology domain, and four polyalanine (polyA) tracts, and missense mutations in the ARX homeodomain represent loss-of-function mutations, which lead to a reduced or complete loss of DNA binding and as a consequence, a loss of transcriptional repression |
| basic FUNCTION
| playing a role in the differentiation, radial and tangential migration and maintenance of specific neuronal subtypes in the cerebral cortex (crucial for the development of cognitive function) and a secondary role in the differentiation of the testes (controlling the function of Leydig cells) |
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acting as a novel positive regulator of embryonic myogenesis by synergizing with MEF2C and MYOD1 and by establishing an activating loop with myogenin |
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can function as a transcriptional repressor |
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important for many developmental processes, including proper migration of GABA-ergic cortical interneurons and neuronal cell differentiation and proliferation, and for proper pancreatic endocrine cell specification through the inhibition of PAX4 |
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plays multiple roles in forebrain development, both dependent and independent of DLX1/2 |
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may play a role in controlling cell cycle exit of neural progenitors within the subpallium |
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not directly involved in GABAergic cell fate specification, but having multiple and distinct cell-autonomous roles for ARX in corticogenesis |
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required for the normal development of human enteroendocrine cells, and in the progenitor for enteroendocrine cell development |
