NK3 homeobox 2 also known as NKX3-2 is a human
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 ...
. It is a homolog of ''bagpipe (bap)'' in ''Drosophila'' and therefore also known as Bapx1 (bagpipe homeobox homolog 1). The
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 ...
encoded by this gene is a
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 ...
containing
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 ...
.
Function
NKX3-2 plays a role in the
development
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Arts
*Development hell, when a project is stuck in development
*Filmmaking, development phase, including finance and budgeting
*Development (music), the process thematic material is reshaped
* Photograph ...
of the axial and limb skeleton.
Mutations disrupting the function of this gene are associated wit
spondylo-megaepiphyseal-metaphyseal dysplasia(SMMD). Nkx3-2 in mice also regulates
patterning in the middle ear.
Two small bones in the middle ear, the malleus and incus, are homologous to the articular and quadrate, the bones of the proximal jaw joint in fish and other non-mammalian jawed vertebrates. NKX3-2 expression is required to pattern the articulated joint between these jaw bones, as
knockdowns or
knockouts of this gene result in the loss of the jaw joint in zebrafish, chicken, and amphibians. Overexpression of this gene results in the development of ectopic mandibular cartilages in zebrafish and amphibians.
References
Further reading
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External links
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Transcription factors
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