KIZ (gene)

Last updated
KIZ
Identifiers
Aliases KIZ , C20orf19, Kizuna, NCRNA00153, PLK1S1, RP69, HT013, kizuna centrosomal protein
External IDs OMIM: 615757 MGI: 2684960 HomoloGene: 10219 GeneCards: KIZ
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001033298

RefSeq (protein)

NP_001028470

Location (UCSC) Chr 20: 21.13 – 21.25 Mb Chr 2: 146.86 – 146.97 Mb
PubMed search [3] [4]
Wikidata
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Kizuna centrosomal protein is a protein that in humans is encoded by the KIZ gene. [5]

Contents

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). [6]

Related Research Articles

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<span class="mw-page-title-main">SFI1</span> Protein-coding gene in the species Homo sapiens

Sfi1 homolog, spindle assembly associated (yeast) is a protein that in humans is encoded by the SFI1 gene. It localizes to the centriole, and its S. pombe ortholog has been shown to be involved in spindle pole body duplication. SFI1 forms a complex with centrin 2.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000088970 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000074749 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Kizuna centrosomal protein".
  6. 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.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.