ATP-binding cassette sub-family A member 3; ATP-binding cassette transporter 3; ATP-binding cassette 3; ABC-C transporter (ABCA3, ABC3)

Function

• role in the formation of pulmonary surfactant, probably by transporting lipids including as cholesterol

Structure

• multifunctional polypeptide with two homologous halves, each containing an hydrophobic membrane-anchoring domain & an ATP binding cassette domain (ABC domain) (putative)
• belongs to the ABC transporter family, ABCA subfamily contains 2 ABC transporter domains

Compartment

membrane (putative)

Expression

• expressed in lung > brain, pancreas, skeletal muscle & heart > placenta, kidney & liver
• expressed in calcitonin-secreting C-cells of the thyroid & in medullary thyroid carcinoma

Pathology

• defects in ABCA3 are the cause of pulmonary alveolar proteinosis

More general terms

• ATP-binding cassette sub-family A (ABC transporter-A, ABCA)
• phosphoprotein

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:21
• OMIM: https://mirror.omim.org/entry/601615
• OMIM: https://mirror.omim.org/entry/610921
• UniProt: http://www.uniprot.org/uniprot/Q99758.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=21