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GENE:

ABCA3 (ATP Binding Cassette Subfamily A Member 3)

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Other names: ABCA3, ATP Binding Cassette Subfamily A Member 3, EST111653, LBM180, ABC-C, ABC3, ATP-Binding Cassette, Sub-Family A (ABC1), Member 3, ATP-Binding Cassette Sub-Family A Member 3, Phospholipid-Transporting ATPase ABCA3, Xenobiotic-Transporting ATPase ABCA3, ATP-Binding Cassette Transporter 3, ABC-C Transporter, ATP-Binding Cassette 3, ABC Transporter 3, SMDP3
Associations
16d
Loss of ABCA3 disrupts lipid balance and leads to AMPK-dependent suppression of SREBP1 in glioblastoma stem cells. (PubMed, Oncogene)
The increased ACs induce the production of mitochondrial reactive oxygen species, which activate adenosine monophosphate-activated protein kinase (AMPK), resulting in the inhibition of SREBP1 signaling and reduced GSC fitness. Overall, these findings suggest that ABCA3 maintains lipid metabolic balance in GSCs, and disrupting this function triggers AMPK-dependent suppression of SREBP1 signaling.
Journal
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ABCA3 (ATP Binding Cassette Subfamily A Member 3) • AMPK (Protein Kinase AMP-Activated Catalytic Subunit Alpha 1)
21d
Hydroxychloroquin (HCQ) in chILD of Genetic Defect (clinicaltrials.gov)
P=N/A, N=25, Completed, Children's Hospital of Fudan University | Recruiting --> Completed | Trial completion date: Jul 2026 --> Mar 2026
Trial completion • Trial completion date
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NKX2-1 (NK2 Homeobox 1) • ABCA3 (ATP Binding Cassette Subfamily A Member 3) • NPC1 (NPC Intracellular Cholesterol Transporter 1)
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hydroxychloroquine
24d
A National Registry For Pulmonary Alveolar Proteinosis (clinicaltrials.gov)
P=N/A, N=500, Recruiting, Children's Hospital Medical Center, Cincinnati | Trial primary completion date: Dec 2025 --> Dec 2030
Trial primary completion date
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NKX2-1 (NK2 Homeobox 1) • CSF2 (Colony stimulating factor 2) • ABCA1 (ATP Binding Cassette Subfamily A Member 1) • ABCA3 (ATP Binding Cassette Subfamily A Member 3) • ABCG1 (ATP Binding Cassette Subfamily G Member 1)
1m
New P2 trial
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ABCA3 (ATP Binding Cassette Subfamily A Member 3) • SFTPA1 (Surfactant Protein A1)
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prednisone • hydroxychloroquine
5ms
Sorcin regulates alveolarization and airway tissue remodeling during lung morphogenesis. (PubMed, Cell Mol Life Sci)
Our findings reveal that Sri-/- mice, compared to wild-type controls, exhibit: (1) impaired alveolarization and abnormal development of bronchi and bronchioles, as observed in histological sections; (2) decreased expression of genes encoding branching morphogenesis markers (e.g., Fgf10) and surfactant proteins (e.g., Sp-b, Sp-c and Abca3), as shown by real-time PCR; (3) increased glycogen content decreased lipid droplets, indicative of type II pneumocyte immaturity and impaired surfactant lipid production; (4) reduced levels of EGFR, RAS and RAB5C proteins, consistent with defects in lung maturation and surfactant protein recycling, as demonstrated by Western blot analysis; and (5) increased expression of phalloidin, α-smooth muscle actin and vimentin, suggesting increased bronchial thickening associated with airway tissue remodeling. Collectively, these data reveal a novel role for Sorcin in lung alveolarization, pulmonary surfactant production, and airway remodeling associated with bronchial contractility, supporting its involvement in respiratory diseases such as respiratory distress syndrome (RDS), asthma and chronic obstructive pulmonary disease (COPD).
Journal
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EGFR (Epidermal growth factor receptor) • VIM (Vimentin) • FGF10 (Fibroblast Growth Factor 10) • ABCA3 (ATP Binding Cassette Subfamily A Member 3) • RAB5C (RAB5C, Member RAS Oncogene Family)
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EGFR expression
6ms
Molecular Investigation in Early-Onset Interstitial Lung Disease: Results From 699 Unrelated Patients. (PubMed, Respirology)
This study highlights the specific patient's characteristics associated with a high or low molecular diagnostic yield in clinical practice. Furthermore, it emphasises the importance of establishing a molecular diagnosis in order to provide genetic counselling to the family.
Journal
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ABCA3 (ATP Binding Cassette Subfamily A Member 3)
9ms
Genetic Variants Influence the Severity of Oral Mucositis in Pediatric Osteosarcoma Patients. (PubMed, Oral Dis)
Oral mucositis risk and severity in a pediatric population being treated for OS with HDMTX, doxorubicin, and cisplatin were associated with genes in the ABC family (ABCA3, ABCC2, and ABCC6 genes).
Journal
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ABCC2 (ATP Binding Cassette Subfamily C Member 2) • ABCA3 (ATP Binding Cassette Subfamily A Member 3) • ABCC6 (ATP Binding Cassette Subfamily C Member 6)
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cisplatin • doxorubicin hydrochloride
9ms
Association of ATP-binding cassette transporter genomic alterations and expressions with patient survival in breast and prostate cancer. (PubMed, Physiol Rep)
However, we found reduced relapse-free survival correlating with reduced RNA expression in select ABC transporters in 4929 breast cancer patients in a KMplot analysis. These findings highlight the potential role of ABC transporters in prostate and breast cancer prognosis and warrant further investigation into their therapeutic implications.
Clinical • Journal
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ABCG2 (ATP Binding Cassette Subfamily G Member 2) • ABCC2 (ATP Binding Cassette Subfamily C Member 2) • ABCC3 (ATP Binding Cassette Subfamily C Member 3) • CFTR (CF Transmembrane Conductance Regulator) • ABCA2 (ATP Binding Cassette Subfamily A Member 2) • ABCA3 (ATP Binding Cassette Subfamily A Member 3) • ABCC6 (ATP Binding Cassette Subfamily C Member 6) • ABCC9 (ATP Binding Cassette Subfamily C Member 9) • ABCG1 (ATP Binding Cassette Subfamily G Member 1)
11ms
Advancements in biomarkers and machine learning for predicting of bronchopulmonary dysplasia and neonatal respiratory distress syndrome in preterm infants. (PubMed, Front Pediatr)
Furthermore, advanced feature extraction methods for analyzing neonatal cry signals offer a non-invasive means to differentiate between conditions like sepsis and nRDS. Overall, these findings emphasize the importance of combining biomarker analysis with advanced computational techniques to improve clinical decision-making and intervention strategies for managing BPD and nRDS in vulnerable preterm infants.
Review • Journal
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IL6 (Interleukin 6) • TNFA (Tumor Necrosis Factor-Alpha) • ABCA3 (ATP Binding Cassette Subfamily A Member 3)
1year
Hydroxychloroquine in Children's Interstitial Lung Diseases With Genetic Causes (clinicaltrials.gov)
P1, N=60, Recruiting, Children's Hospital of Fudan University | Not yet recruiting --> Recruiting
Enrollment open
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ABCA3 (ATP Binding Cassette Subfamily A Member 3)
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hydroxychloroquine
1year
The molecular impact of miR-326 in acute lymphoblastic leukemia and its cross talk with P53. (PubMed, Ann Hematol)
Subsequently, the ceRNA network between miR-326 and LncRNAs was exhibited and the impact of exogenous miR-326 on the expression levels of its molecular sponges, H19 and SNHG1 was examined using RT-qPCR. Future studies will explore the potential impact of miR-326 on its targets, and how this may influence the development of novel therapeutic strategies for ALL.
Journal • IO biomarker
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BCL2 (B-cell CLL/lymphoma 2) • CCND1 (Cyclin D1) • MDM2 (E3 ubiquitin protein ligase) • ABCB1 (ATP Binding Cassette Subfamily B Member 1) • BCL2L1 (BCL2-like 1) • ABCC1 (ATP Binding Cassette Subfamily C Member 1) • H19 (H19 Imprinted Maternally Expressed Transcript) • CDKN1A (Cyclin-dependent kinase inhibitor 1A) • SNHG1 (Small Nucleolar RNA Host Gene 1) • ABCA3 (ATP Binding Cassette Subfamily A Member 3) • MIR326 (MicroRNA 326)