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Protein-coding gene in the species Homo sapiens
Kizuna centrosomal protein is a protein that in humans is encoded by the KIZ gene .[ 5]
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 [ edit ] Mutations in KIZ cause Rod-cone dystrophy (RCD) .[ 6]
^ a b c GRCh38: Ensembl release 89: ENSG00000088970 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000074749 – 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 .^ "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 (2014). "Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy" . Am. J. Hum. Genet . 94 (4): 625–33. doi :10.1016/j.ajhg.2014.03.005 . PMC 3980423 PMID 24680887 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
