ABCA3 : ATP binding cassette subfamily A member 3

Description

The ABCA3 gene, located on chromosome 16, provides instructions for making a protein called ATP-binding cassette sub-family A member 3. This protein plays a crucial role in the production and transport of surfactant, a complex mixture of lipids and proteins that lines the alveoli (tiny air sacs) in the lungs. Surfactant helps to prevent the collapse of alveoli during exhalation, making it essential for normal breathing. Mutations in the ABCA3 gene can disrupt surfactant production, leading to a range of respiratory problems.

Associated Diseases

• Respiratory distress syndrome (RDS) in newborns
• Pulmonary alveolar proteinosis (PAP)
• Interstitial lung disease (ILD)
• Chronic obstructive pulmonary disease (COPD)

Did you know?

Mutations in the ABCA3 gene are particularly prevalent in individuals of European descent.