2024年12月24日 · ABCA3 (ATP Binding Cassette Subfamily A Member 3) is a Protein Coding gene. Diseases associated with ABCA3 include Surfactant Metabolism Dysfunction, Pulmonary, 3 and Hereditary Pulmonary Alveolar Proteinosis. Among its related pathways are Autodegradation of the E3 ubiquitin ligase COP1 and Surfactant metabolism.

2022年4月12日 · ABCA3主要定位于AT2细胞内的层状体（LBs），通过将表面活性剂脂质分子转运到LBs中，从而参与表面活性剂的生成（图1A）。 ABCA3基因的突变会导致表面活性剂缺陷，从而引发严重的肺部疾病，例如新生儿呼吸窘迫综合征、间质性肺炎等。 迄今为止，还没有针对由 ABCA3 突变引起的遗传性疾病的特定疗法。...

三磷酸腺苷结合盒转运蛋白A3（ATP binding cassette transporter A3,ABCA3）是Ⅱ型肺泡细胞中磷脂代谢的关键蛋白，参与表面活性物质的合成。 早期研究发现ABCA3基因变异可导致儿童间质性肺疾病（childhood interstitial lung disease，chILD），但发病机制不明。 近年来通过对ABCA3蛋白结构的解析和功能研究，对于ABCA3参与磷脂代谢的机制有了新的认识，并启发了针对ABCA3基因变异的小分子药物的研发。 该文就ABCA3蛋白参与的磷脂代谢及其相关肺疾病 …

ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ABCA3 gene. [5][6] The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes.

The lipid transporter, ATP binding cassette, class A3 (ABCA3) is a highly conserved multi-membrane spanning protein that plays a critical role in the regulation of pulmonary surfactant homeostasis. Mutations in ABCA3 have been increasingly recognized as one of the causes of inherited pulmonary diseases.

The ABCA3 gene provides instructions for making a protein involved in surfactant production. Surfactant is a mixture of certain fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy.

Rare or private, biallelic variants in the ABCA3 (ATP-binding cassette transporter A3) gene are the most common monogenic cause of lethal neonatal respiratory failure and childhood interstitial lung disease. Functional characterization of fewer than ...

abca3主要定位于肺泡ii型（at2）细胞内的层状体（lbs）。 肺表面活性剂能够降低肺泡表面张力，维持正常呼吸。 ABCA3参与表面活性剂的生成，其突变会导致表面活性剂缺陷，引发严重的肺部疾病，如 新生儿呼吸窘迫综合征 、间质性肺炎等。

Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and ...

Patients with null/null mutations predicting complete ABCA3 deficiency died within the 1st weeks to months of life, while those with null/other or other/other mutations had a more variable presentation and outcome.