Homeobox protein Nkx-6.2 is a protein that in humans is encoded by the NKX6-2gene.[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]
^"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.
^Lee SH, Davison JA, Vidal SM, Belouchi A (February 2001). "Cloning, expression and chromosomal location of NKX6B TO 10Q26, a region frequently deleted in brain tumors". Mamm. Genome. 12 (2): 157–62. doi:10.1007/s003350010247. PMID11210186. S2CID22368753.
^ abHosseini Bereshneh, A; Hosseipour, S; Rasoulinezhad, M; Pak, N; Garshasbi, M; Tavasoli, A (2020). "Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8". European Journal of Medical Genetics. 63: 103868. doi:10.1016/j.ejmg.2020.103868.
^ abChelban, V; Patel, N; Vandrovcova, J; Zanetti, M; Lynch, D; Ryten, M; Botia, J; Bello, O; Tribollet, E; Efthymiou, S; Davagnanam, I; Bashiri, F; Wood, N; Rothman, J; Alkuraya, F (2017). "Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination". The American Journal of Human Genetics. 100: 969–977.
^Komuro, I; Schalling, M; Jahn, L; Bodmer, R; Jenkins, N; Copeland, N; Izumo, S (1993). "Gtx: a novel murine homeobox‐containing gene, expressed specifically in glial cells of the brain and germ cells of testis, has a transcriptional repressor activity in vitro for a serum‐inducible promoter". The EMBO Journal. 12: 1387–1401.
^Southwood, C; He, C; Garbern, J; Kamholz, J; Arroyo, E; Gow, A (2004). "CNS myelin paranodes require Nkx6-2 homeoprotein transcriptional activity for normal structure". Journal of Neuroscience. 24: 11215–11225.