The classification of ATP-binding cassette subfamily A member 3 mutations using the cystic fibrosis transmembrane conductance regulator classification system.

ABSTRACT:

Importance

The ATP-binding cassette subfamily A member 3 (ABCA3) protein plays a vital role in surfactant homeostasis. Mutations in the ABCA3 gene lead to the development of interstitial lung disease. In the most severe manifestation, mutations can lead to a fatal respiratory distress syndrome in neonates. ABCA3 belongs to the same ATP-binding cassette transporter superfamily as the cystic fibrosis transmembrane conductance regulator (CFTR), the gene that causes cystic fibrosis.

Objective

To classify ABCA3 mutations in a manner similar to CFTR mutations in order to take advantage of recent advances in therapeutics.

Methods

Sequence homology between the CFTR protein and the ABCA3 protein was established. The region of CFTR that is a target for the new potentiato

SUBMITTER: Denman L 

PROVIDER: S-EPMC7331442 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature