ABCA3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood interstitial lung disease

  BIALLELIC, autosomal or pseudoautosomal

• Familial pulmonary fibrosis

  BIALLELIC, autosomal or pseudoautosomal

• Pulmonary fibrosis familial

  BIALLELIC, autosomal or pseudoautosomal

• Corneal abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• Neonatal acute respiratory distress with surfactant metabolism deficiency

  0.85

• Congenital pulmonary alveolar proteinosis

  0.84

• hereditary pulmonary alveolar proteinosis

  0.56

• newborn respiratory distress syndrome

  0.48

• Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies

  0.45

• neurodegenerative disease

  0.42

• idiopathic pulmonary fibrosis

  0.41

• interstitial lung disease

  0.39

• carbamoyl phosphate synthetase I deficiency disease

  0.27

• Loeys-Dietz syndrome

  0.27

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

Protein function (UniProt)