NKX3-2
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| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 4: 13.54 – 13.54 Mb | Chr 5: 41.92 – 41.92 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
NK3 homeobox 2 also known as NKX3-2 is a human
Function
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]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000109705 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000049691 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 9344671.
- PMID 11523821.
- PMID 20004766.
- S2CID 447070.
- PMID 12588851.
- PMID 14729484.
- S2CID 52133937.
- PMID 23698351.
- PMID 29942645.
Further reading
- Rainbow RS, Heenam K, Li Z, et al. (2014). "The role of Nkx3.2 in chondrogenesis". Frontiers in Biology. 9 (5): 376–381. PMID 4859764.
- Provot S, Kempf H, Murtaugh LC, Chung U, Kim DW, Chyung J, Kronenberg HM, Lassar, AB, et al. (2006). "Nkx3.2/Bapx1 acts as a negative regulator of chondrocyte maturation". Development. 133 (4): 651–662. S2CID 18519312.
External links
- Bapx1+protein,+mouse at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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