Entity Details

Primary name KIZ
Entity type gene
Source Source Link

Details

PrimaryID55857
RefseqGeneNG_033122
SymbolKIZ
Namekizuna centrosomal protein
Chromosome20
Location20p11.23
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKIZ_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0007051 spindle organization
GO:0019901 protein kinase binding
GO:0042995 cell projection

Diseases

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Disease IDSourceNameDescription
615780 OMIMRetinitis pigmentosa 69 (RP69)A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.