ABCA3

ABCA3 (ATP-binding cassette sub-family A member 3) is a protein that in humans is encoded by the ABCA3 gene. It is a member of the ATP-binding cassette transporter family, which is a large family of proteins involved in the transport of various molecules across the extra- and intra-cellular membranes.

Function

ABCA3 is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene is involved in perinatal lung maturation.

Clinical significance

Mutations in the ABCA3 gene are associated with neonatal surfactant deficiency and Interstitial lung disease in children and adults.

See also

• ATP-binding cassette transporter
• Interstitial lung disease
• Neonatal surfactant deficiency

References

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External links

• GeneReviews/NCBI/NIH/UW entry on ABCA3-Related Disorders

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