KIZ Chromosome 20
Kizuna centrosomal protein
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What This Gene Does
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]
Associated Conditions (13)
Retinal dystrophy
Papillary renal cell carcinoma type 1
Retinitis pigmentosa 69
Lung cancer
Adrenocortical carcinoma
hereditary
Retinitis pigmentosa
KIZ-related disorder
Neurodevelopmental disorder
mitochondrial
with abnormal movements and lactic acidosis
with or without seizures
KIZ-related retinopathy
Key Variants
RS11087346
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1477553904
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS201376938
Conflicting classifications of pathogenicity
Health Risk
RS370051792
Conflicting classifications of pathogenicity
Health Risk
RS372338345
Conflicting classifications of pathogenicity
Health Risk
RS373803095
Conflicting classifications of pathogenicity
Health Risk
RS755436546
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS756423093
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS758224894
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS758692347
Conflicting classifications of pathogenicity
Health Risk
RS760383931
Conflicting classifications of pathogenicity
Health Risk
RS1190041303
Likely pathogenic
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2033722183 | Health Risk | Pathogenic/Likely pathogenic | KIZ-related retinopathy, KIZ-related retinopathy |
| RS587777376 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 69, Retinitis pigmentosa 69 |
| RS775124094 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS890128759 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |