CEP89

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Mitochondrial disorder with complex IV deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodegenerative disease

  0.37

• cystinuria

  0.27

• gout

  0.26

• preeclampsia

  0.25

• colorectal adenocarcinoma

  0.21

• vitiligo

  0.19

• neoplasm

  0.19

• lung adenocarcinoma

  0.19

• breast carcinoma

  0.19

• prostate carcinoma

  0.19

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

Protein function (UniProt)