DLX3
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Homeobox 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- ...
protein DLX-3 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 ''DLX3''
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

Dlx3 is a crucial regulator of hair follicle differentiation and cycling. Dlx3 transcription is mediated through Wnt, and colocalization of Dlx3 with
phospho Phosphorus is a chemical element with the symbol P and atomic number 15. Elemental phosphorus exists in two major forms, white phosphorus and red phosphorus, but because it is highly reactive, phosphorus is never found as a free element on Eart ...
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SMAD1 Mothers against decapentaplegic homolog 1 also known as SMAD family member 1 or SMAD1 is a protein that in humans is encoded by the ''SMAD1'' gene. Nomenclature SMAD1 belongs to the SMAD, a family of proteins similar to the gene products of the ...
/ 5/ 8 is involved in the regulation of transcription by BMP signaling. Dlx3 transcription is also induced by
BMP-2 The BMP-2 (''Boyevaya Mashina Pekhoty'', , literally "combat machine/vehicle (of the) infantry") is an amphibious infantry fighting vehicle introduced in the 1980s in the Soviet Union, following on from the BMP-1 of the 1960s. Development hist ...
through
transactivation In the context of gene regulation: transactivation is the increased rate of gene expression triggered either by biological processes or by artificial means, through the expression of an intermediate transactivator protein. In the context of recep ...
with
SMAD1 Mothers against decapentaplegic homolog 1 also known as SMAD family member 1 or SMAD1 is a protein that in humans is encoded by the ''SMAD1'' gene. Nomenclature SMAD1 belongs to the SMAD, a family of proteins similar to the gene products of the ...
and
SMAD4 SMAD4, also called SMAD family member 4, Mothers against decapentaplegic homolog 4, or DPC4 (Deleted in Pancreatic Cancer-4) is a highly conserved protein present in all metazoans. It belongs to the SMAD family of transcription factor proteins, ...
. Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a
homeobox 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- ...
that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members,
DLX1 Homeobox protein DLX-1 is a protein that in humans is encoded by the ''DLX1'' gene. Function This gene encodes a member of a homeobox transcription factor gene family similar to the ''Drosophila'' distal-less gene. The encoded protein is locali ...
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DLX6 Homeobox protein DLX-6 is a protein that in humans is encoded by the ''DLX6'' gene. This gene encodes a member of a homeobox transcription factor gene family similar to the Drosophila ''Drosophila'' () is a genus of flies, belonging to the f ...
. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of
chromosome 17 Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 83 million base pairs (the building material of DNA) and represents between 2.5 and 3% of the total D ...
.


Clinical significance

Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome (TDO) and
amelogenesis imperfecta Amelogenesis imperfecta (AI) is a congenital disorder which presents with a rare abnormal formation of the enamel or external layer of the crown of teeth, unrelated to any systemic or generalized conditions. Enamel is composed mostly of mineral, ...
with
taurodontism Taurodontism is defined as the enlargement of pulp chambers with the furcation area being displaced toward the apex of the root. It cannot be diagnosed clinically and requires radiographic visualization since the crown of a taurodontic tooth ap ...
.


References


Further reading

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External links

* * Transcription factors {{gene-17-stub