Introduction of ABCA3
ABCA3 encoded by ABCA3 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters which transport various molecules across extra- and intracellular membranes. There are seven subfamilies in ABC superfamily named as ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White, respectively. ABCA3 protein belongs to ABC1 subfamily and is high homology to ABCA1 and ABCA2. It is most expressed in the alveolar type II cells in the lung.
|Basic Information of ABCA3|
|Protein Name||ATP-binding cassette sub-family A member 3|
|Aliases||ABC3, ABC-C, SMDP3, LBM180|
|Organism||Homo sapiens (Human)|
Function of ABCA3 Membrane Protein
ABCA3 is an integral membrane protein that transport lipid across biological membrane depending on the energy from ATP hydrolysis. ABCA3 is mainly present in the membrane of the lamellar bodies and involved in lamellar body formation and surfactant metabolism that is needed for normal lung functions. ABCA3 can transport phospholipids into the lamellar bodies in which they interact with surfactant proteins to form surfactant. The surfactant is located in the lung tissue and regulates respiration. Surfactant metabolism dysfunction may lead to severe respiratory insufficiency. It has been reported that mutations in ABCA3 are found in the newborns with severe lung diseases who display clinical and radiographic features of surfactant deficiency. Moreover, infants with mutations of ABCA3 such as nonsense or frameshift mutations are likely to have respiratory distress at birth and require lung transplantation within the first year of life. And during lung transplantation, the whole-lung lavage fluid obtained from infants with ABCA3 deficiency includes a reduced surfactant phospholipids levels and a weakened ability to lower surface tension.
Fig.1 Schematic representation of ABCA3 protein with domains indicated in blue (α-helices) and green (NBDs). (Paolini, 2015)
Application of ABCA3 Membrane Protein in Literature
The study suggests that the missense mutations of ABCA3 can lead to pulmonary disease of variable severity with different cellular phenotypes.
The study reports the E292V (c.875A>T) mutation in trans with a novel C-terminal frame shift mutation (c.4938delC) in a term infant with ABCA3 surfactant deficiency syndrome.
The authors analyze the genetic basis of 62 Japanese patients with childhood interstitial lung disease (chILD). Results show that causative genetic variants for chILD are identified in 11 patients. However, no patients have ABCA3 variants.
The study reports the first case of a newborn baby girl with severe respiratory distress who carries the compound heterozygous frameshift mutation of the ABCA3 gene survives until the age of five years.
The study shows that lacking ABCA3 may lead to alveolar cell injury and respiratory failure. And the lung dysfunction related to ABCA3 is linked to surfactant deficiency, inflammation, and alveolar-capillary leak.
ABCA3 Preparation Options
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