KIZ (gene) explained
Kizuna centrosomal protein is a protein that in humans is encoded by the KIZ gene.[1]
Function
The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013].
Clinical significance
Mutations in KIZ cause Rod-cone dystrophy (RCD).[2]
Further reading
- Oshimori N, Li X, Ohsugi M, Yamamoto T . Cep72 regulates the localization of key centrosomal proteins and proper bipolar spindle formation . EMBO J. . 28 . 14 . 2066–76 . 2009 . 19536135 . 2718283 . 10.1038/emboj.2009.161 .
- Oshimori N, Ohsugi M, Yamamoto T . The Plk1 target Kizuna stabilizes mitotic centrosomes to ensure spindle bipolarity . Nat. Cell Biol. . 8 . 10 . 1095–101 . 2006 . 16980960 . 10.1038/ncb1474 . 7019832 .
Notes and References
- Web site: Entrez Gene: Kizuna centrosomal protein .
- El Shamieh S, Neuillé M, Terray A, Orhan E, Condroyer C, Démontant V, Michiels C, Antonio A, Boyard F, Lancelot ME, Letexier M, Saraiva JP, Léveillard T, Mohand-Saïd S, Goureau O, Sahel JA, Zeitz C, Audo I . Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy . Am. J. Hum. Genet. . 94 . 4 . 625–33 . 2014 . 24680887 . 10.1016/j.ajhg.2014.03.005 . 3980423.