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, …

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 …

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 …

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 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 …

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 …

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 …

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 …

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 …

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 …