AP1B1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Corneal dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Ichthyosis and erythrokeratoderma

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Intestinal failure or congenital diarrhoea

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

• Palmoplantar keratodermas

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• ichthyosiform erythroderma, corneal involvement, and hearing loss

  0.71

• HIV infectious disease

  0.50

• MEDNIK syndrome

  0.37

• neurodegenerative disease

  0.37

• KID syndrome

  0.29

• hereditary disease

  0.20

• alcohol drinking

  0.18

• urolithiasis

  0.18

• primary ciliary dyskinesia

  0.07

• Heterotaxia

  0.06

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

Protein function (UniProt)