KIZ

Chr 20p11.23

kizuna centrosomal protein

Aliases:: HT013
MANE:: ENST00000619189.5

OMIM: 615757 ↗NCBI: 55857 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

KIZ · Q2M2Z5

v62025-08-01

Predicted Aligned Error matrix for KIZ — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

54.0/ 100

Low

673 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)4%
Low(50–70)18%
Very low(< 50)63%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

retinitis pigmentosa 69
0.66
retinitis pigmentosa
0.63
Retinal dystrophy
0.61
KIZ-related retinopathy
0.45
Abnormality of the skeletal system
0.45
atrial fibrillation
0.39
attention deficit-hyperactivity disorder
0.39
autism spectrum disorder
0.38
Rod-cone dystrophy
0.37
schizophrenia
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Centrosomal protein kizuna

Centrosomal protein required for establishing a robust mitotic centrosome architecture that can endure the forces that converge on the centrosomes during spindle formation. Required for stabilizing the expanded pericentriolar material around the centriole