NK3 homeobox 2 also known as NKX3-2 is a human gene. It is a homolog of bagpipe (bap) in Drosophila and therefore also known as Bapx1 (bagpipe homeobox homolog 1). The protein encoded by this gene is a homeodomain containing transcription factor. [5]
NKX3-2 plays a role in the development of the axial and limb skeleton. [6] Mutations disrupting the function of this gene are associated with spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD). [7] Nkx3-2 in mice also regulates patterning in the middle ear. [8] 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, [9] chicken, [10] and amphibians. [11] Overexpression of this gene results in the development of ectopic mandibular cartilages in zebrafish [12] and amphibians. [13]
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