Homeobox protein Emx2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''EMX2''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
The
homeodomain
A homeobox is a DNA sequence, around 180 base pairs long, that regulates large-scale anatomical features in the early stages of embryonic development. For instance, mutations in a homeobox may change large-scale anatomical features of the full-g ...
transcription factor
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The fu ...
EMX2 is critical for central nervous system and urogenital development.
EMX1
Homeobox protein EMX1 is a protein that in humans is encoded by the ''EMX1'' gene. The transcribed EMX1 gene is a member of the EMX family of transcription factors. The EMX1 gene, along with its family members, are expressed in the developing cer ...
(MIM 600034) and EMX2 are related to the 'empty spiracles' gene expressed in the developing ''
Drosophila
''Drosophila'' () is a genus of flies, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or (less frequently) pomace flies, vinegar flies, or wine flies, a reference to the characteristic of many species ...
'' head.
upplied by OMIM
The EMX2 gene encodes for a transcription factor that is a homolog to
Drosophila melanogaster
''Drosophila melanogaster'' is a species of fly (the taxonomic order Diptera) in the family Drosophilidae. The species is often referred to as the fruit fly or lesser fruit fly, or less commonly the "vinegar fly" or "pomace fly". Starting with Ch ...
“empty spiracles” gene.
The “empty spiracles gene” is needed for the proper head development/formation as well as the development of posterior spiracles in
Drosophila melanogaster
''Drosophila melanogaster'' is a species of fly (the taxonomic order Diptera) in the family Drosophilidae. The species is often referred to as the fruit fly or lesser fruit fly, or less commonly the "vinegar fly" or "pomace fly". Starting with Ch ...
.
In humans, EMX2 shows high expression in the dorsal
telencephalon
The cerebrum, telencephalon or endbrain is the largest part of the brain containing the cerebral cortex (of the two cerebral hemispheres), as well as several subcortical structures, including the hippocampus, basal ganglia, and olfactory bulb. In ...
, olfactory neuroepithelium, as well as the urogenital system.
In the developing uroepithelium, EMX2 is negatively regulated by
HOXA10
Homeobox protein Hox-A10 is a protein that in humans is encoded by the ''HOXA10'' gene.
Function
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four sep ...
.
EMX2 has been associated with
Schizencephaly
Schizencephaly () is a rare birth defect characterized by abnormal clefts lined with grey matter that form the ependyma of the cerebral ventricles to the pia mater. These clefts can occur bilaterally or unilaterally. Common clinical features of ...
,
a disease where there are large parts of the brain hemispheres absent and that are replaced with cerebrospinal fluid, clinical observations can include seizures, blindness, and inability to walk/speak.
EMX2 has also been shown to have an important role in tumorigenesis. One study found that the expression of EMX2 is significantly decreased in tissues and cells with colorectal cancer. It is suspected that EMX2 could be used as a treatment of colorectal cancer.
See also
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EMX1
Homeobox protein EMX1 is a protein that in humans is encoded by the ''EMX1'' gene. The transcribed EMX1 gene is a member of the EMX family of transcription factors. The EMX1 gene, along with its family members, are expressed in the developing cer ...
References
Further reading
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External links
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Transcription factors
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