background:
Emx1 and Emx2 are human homologs to the Drosophila developmental genes empty spiracles expressed in anterior body regions during early Drosophila embryogenesis. Emx1 and Emx2 are homeobox proteins expressed in the developing vertebrate brain. Emx2 is expressed in the dorsal telencephalon and small diencephalic regions, while Emx1 expression is exclusively confined to pyramidal neurons of the dorsal telencephalon. In the embryonic brain, Emx1 is expressed in both proliferating and differentiating neurons while Emx2 is expressed only in proliferating neurons. OTX1 and OTX2 are human homologs of the Drosophila developmental genes orthodenticle. In development, the sequence of expression begins with OTX2 at day ten post coitum followed by OTX1, Emx2 and finally Emx1. The genes encoding human Emx1 and Emx2 map to chromosomes 2p13.2 and 10q26.11, respectively.
Function:
Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system.
Subcellular Location:
Nucleus.
Tissue Specificity:
Cerebral cortex.
DISEASE:
Defects in EMX2 are the cause of schizencephaly (SCHZC) [MIM:269160]. Schizencephaly is an extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid.
Similarity:
Belongs to the EMX homeobox family.
Contains 1 homeobox DNA-binding domain.
Database links:
UniProtKB/Swiss-Prot: Q04743.2
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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