AP3B1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Albinism or congenital nystagmus

  BIALLELIC, autosomal or pseudoautosomal

• Bleeding and platelet disorders

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Familial pulmonary fibrosis

  BIALLELIC, autosomal or pseudoautosomal

• Inherited bleeding disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Pigmentary skin disorders

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Hermansky-Pudlak syndrome 2

  0.83

• Hermansky-Pudlak syndrome

  0.75

• Hermansky-Pudlak syndrome with neutropenia

  0.68

• cancer

  0.55

• Parkinson disease

  0.47

• neurodegenerative disease

  0.45

• Alzheimer disease

  0.45

• lysosomal storage disease

  0.45

• multiple sclerosis

  0.45

• Abnormality of the skeletal system

  0.42

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

Protein function (UniProt)