NKX6-2
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| Location (UCSC) | Chr 10: 132.78 – 132.79 Mb | Chr 7: 139.16 – 139.16 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Homeobox protein Nkx-6.2 is a protein that in humans is encoded by the NKX6-2 gene.[5][6]
Nk6 homeobox 2 gene (Nkx6.2) is found on chromosome 10 in humans and on chromosome 7 in murine species.[7][8] Expression of the Nkx6.2 gene results in the Nkx6.2 transcription factor.[9] Its expression can be seen in the fetal brain, ventral portion of the neural tube, and the developing spinal cord during embryogenesis as well as in the adult brain.[9][10] Expression was also found to be in germ cells of testes.[11]
Nkx6.2 is involved in the patterning of the central nervous system during early embryo development.[12] As this gene continues to be researched, newfound information suggests that it aids in human oligodendrocyte maturation.[10][13] It has also been found to be important in motor function stemming from spinal neuronal circuits.[7]
Disorders with this gene can result in Spastic Ataxia which is a disease characterized by possible neurological issues, impaired learning ability, and a hypomyelinated central nervous system.[8][14] Another study has shown that methylation of Nkx6.2 can be correlated with renal cancer metastasis.[15] An Nkx6.2 knock-out mouse model showed abnormal motor ability thus corroborating that Nkx6.2 plays a role in central nervous system development.[7]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000148826 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041309 – 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.
- S2CID 22368753.
- ^ "Entrez Gene: NK6 homeobox 2".
- ^ PMID 31969659.
- ^ PMID 32004679.
- ^ PMID 11567614.
- ^ PMID 28575651.
- PMID 8096811.
- PMID 15601927.
- PMID 19780200.
- .
- PMID 36232491.
Further reading
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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