KIZ

Chr 20

kizuna centrosomal protein

Also known as: C20orf19, HT013, Kizuna, NCRNA00153, PLK1S1, RP69

NCBI Gene: 55857 ENSG00000088970 UniProt: Q2M2Z5

The KIZ protein localizes to centrosomes and is required for establishing robust mitotic centrosome architecture that can withstand forces during spindle formation, particularly stabilizing the pericentriolar material around the centriole. Mutations cause autosomal recessive primary microcephaly with onset in infancy, reflecting the critical role of proper centrosome function in cortical neurogenesis. This condition primarily affects brain development and growth, resulting in significantly reduced head circumference and intellectual disability.

GeneReviews ResearchSummary from RefSeq, UniProt

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. Sevral transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRetinitis pigmentosa 69

Clinical highlights

Gene-disease validity (ClinGen)

KIZ-related retinopathy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

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GeneReview available — KIZ