ZIC1 is a member of the Zinc finger of the cerebellum (ZIC) protein family.[1][2]
ZIC1 is classified as a ZIC protein due to conservation of the five C2H2 zinc fingers, which enables the protein to interact with DNA and proteins. ZIC1 is found in close genomic configuration in another member of this protein family, ZIC4. Correct function of these proteins in critical for early development, and as such mutations of the genes encoding these proteins is known to result in various congenital defects. For example, if function of both ZIC1 and ZIC4 is lost (which can occur via an interstitial deletion due to their adjacent location) then this may result in the Dandy-Walker malformation.[3]
↑Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ (October 2004). "Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation". Nat Genet. 36 (10): 1053–5. doi:10.1038/ng1420. PMID15338008.
↑ 4.04.1Koyabu, Y; Nakata K; Mizugishi K; Aruga J; Mikoshiba K (March 2001). "Physical and functional interactions between Zic and Gli proteins". J. Biol. Chem. United States. 276 (10): 6889–92. doi:10.1074/jbc.C000773200. ISSN0021-9258. PMID11238441.
Further reading
Houtmeyers R, Souopgui J, Tejpar S, Arkell R (2013). "The ZIC gene family encodes multi-functional proteins essential for patterning and morphogenesis". Cell Mol Life Sci. 70 (20): 3791–811. doi:10.1007/s00018-013-1285-5. PMID23443491.
Bagutti C, Forro G, Ferralli J, et al. (2004). "The intracellular domain of teneurin-2 has a nuclear function and represses zic-1-mediated transcription". J. Cell Sci. 116 (Pt 14): 2957–66. doi:10.1242/jcs.00603. PMID12783990.
Pourebrahim R, Van Dam K, Bauters M, et al. (2007). "ZIC1 gene expression is controlled by DNA and histone methylation in mesenchymal proliferations". FEBS Lett. 581 (26): 5122–6. doi:10.1016/j.febslet.2007.09.061. PMID17936758.