Recombinant Human ATP-binding cassette sub-family A member 3 (ABCA3), partial

1. a mutation (E292V) located in the first cytoplasmic loop of ABCA3 did not significantly affect lipid transport, but rather resulted in smaller vesicles. In addition to these findings, the assay used in this work for analysing the PC-lipid transport into ABCA3 positive vesicles will be useful to screen for compounds susceptible to restore function in mutated ABCA3 protein. PMID: 28887056
2. two ABCA3 mutations (p.R288K and p.R1474W) identified among term and late-preterm infants with respiratory distress syndrome, were characterized. PMID: 27374344
3. 1153 patients with diffuse parenchymal lung disease (DPLD) were registered in the KLR. The DNA of 242 of these patients was sequenced for ABCA3 mutations. 69 patients had at least one variation in the ABCA3 gene. Of 40 patients with two disease-causing ABCA3 mutations, 22 patients were homozygous and 18 heterozygous. PMID: 27516224
4. Genes ABCC7, A3, A8, A12, and C8 prevailed among the most upregulated or downregulated ones. In conclusion, the results supported our theory about general adenosine triphosphate-binding cassette gene expression profiles and their importance for cancer on clinical as well as research levels. PMID: 28468577
5. transporter oligomerization is crucial for ABCA3 function. PMID: 27352740
6. The TGGAG haplotype may be a risk factor for Respiratory Distress Syndrome in preterm infants in this Chinese population. The haplotype TGGAG was significantly more frequent in RDS infants than in non-RDS infants. PMID: 26522252
7. Rare mutations in surfactant-associated genes contribute to neonatal respiratory distress syndrome. We resequenced all exons of the ATP-binding cassette member A3 (ABCA3) and we found three ABCA3 mutations in the Han [minor allele frequency (MAF)=0.003] and 7 in the Zhuang (MAF=0.011) cohorts. The contribution of these rare ABCA3 mutations to disease burden in the south China population is still unknown. PMID: 26547207
8. The clinical features of ABCA3 mutations, including onset, severity or clinical course are very heterogeneous. In the two siblings we had a lightly discordant course that could be explained by exposure to different environmental stresses or variable penetrance. PMID: 26508177
9. These results provide evidence of ABCA3 as an MLF efflux transporter in human macrophages and support its role in the direct antileishmanial effect of this alkylphosphocholine drug. PMID: 26903515
10. Studies indicate that ATP-binding cassette (ABC), subfamily A, member 3 (ABCA3) is developmentally regulated. PMID: 26517903
11. Data discussed the structural features of ABCA3 and how the use of bioinformatics tools could help researchers to obtain a reliable structural model to locate relevant mutations and make genotype/phenotype correlations of affected patients. [review] PMID: 26295388
12. SLCO1B3 699GG and 344TT genotypes are associated with non-response to IM, while ABCA3 4548-91 CC/CA genotypes are related to poor CMR in CML patients treated with standard-dose imatinib. PMID: 25056761
13. Accumulation of free cholesterol as a result of a loss of ABCA3 export function represents a novel pathomechanism in ABCA3-induced Diffuse parenchymal lung disease. PMID: 25817392
14. Report of ABCA3 mutations in a family with one child exhibiting interstitial lung disease. PMID: 23846195
15. In the title. PMID: 25073622
16. We identified a cataract-microcornea syndrome (cmcc) associated gene, ABCA3, which had heterozygous missense mutations in two autosomal dominant CCMC families. Another four heterozygous mutations, 2 missense and 2 splice site mutations were identified. PMID: 25406294
17. Therapeutic strategies for chronic interstitial lung disease have been used successfully in cases of a mild clinical course in juvenile patients with ABCA3 gene mutation. In our patient with homozygous ABCA3 gene mutation,they were not effective. PMID: 24633979
18. Two siblings are described who were homozygous for a 5,983 bp deletion in ABCA3 including exons 2-5 as well as the start AUG codon and a putative Golgi exit signal motif. PMID: 24420869
19. A large kindred is identified with a novel ABCA3 mutation causing pulmonary fibrosis. PMID: 24730976
20. ABCA3 protein, human genetic variants does not increase the risk of neonatal respiratory distress syndrome. PMID: 24657120
21. Genotype-phenotype correlations exist for homozygous or compound heterozygous mutations in ABCA3 causing neonatal respiratory failure or childhood interstitial lung disease. PMID: 24871971
22. A novel missense mutation in ABCA3 was found to cause fatal congenital surfactant deficiency in two siblings. PMID: 24628317
23. Identification of novel compound heterozygous mutations in the coding exons of ABCA3 in two brothers with interstitial lung disease. PMID: 23443156
24. A compound heterozygote for both novel mutations in the ABCA3 gene. PMID: 24269975
25. cotranslational N-linked glycosylation at N124 and N140 is critical for ABCA3 stability, and its disruption results in protein destabilization and proteasomal degradation PMID: 24142515
26. Tyrosine kinase inhibitor exposure facilitates a protective loop of SALL4 and ABCA3 cooperation in persistent leukaemic cells. PMID: 23432194
27. partially reduced ABCA3 activity due to E292V is not a major risk factor for reduced lung function and COPD in the general population PMID: 22866751
28. Genetic variants within ABCA3 may be the genetic cause of or a contributor to some unexplained refractory neonatal respiratory distress syndrome. PMID: 22455634
29. Although ABCA3 mutations are individually rare, they are collectively common among European- and African-descent individuals in the general population. PMID: 23166334
30. An intronic ABCA3 mutation is responsible for a fatal respiratory disease in newborns. PMID: 22337229
31. There is an association between a synonymous cSNP rs323043 and the development of neonatal respiratory distress syndrome. PMID: 22800827
32. identification of new ABCA3 mutations in patients with life-threatening neonatal respiratory distress and/or pediatric interstitial lung disease (ILD); two mutations associated with ILD acted via different pathophysiological mechanisms despite similar clinical phenotypes PMID: 22068586
33. Data suggest the impairment of epithelial function as a mechanism by which ABCA3 mutations cause interstitial lung disease (ILD). PMID: 22434821
34. the ABCA3 missense mutation E292V had no remarkable effect on pulmonary outcome in VLBW infants. Present results do not rule out the possibility that E292V phenotype is associated with minor difference in the morbidity. PMID: 22145626
35. Several genetic abnormalities have been associated with familial pulmonary fibrosis. The present study examined the genes coding for surfactant protein-C, ATPbinding cassette protein A3 and telomerase, and found no abnormalities. PMID: 21165348
36. A novel conserved targeting motif found in ABCA transporters mediates trafficking to early post-Golgi compartments. PMID: 21586796
37. Lymphoma exosomes shield target cells from antibody attack and that exosome biogenesis is modulated by the lysosome-related organelle-associated ATP-binding cassette (ABC) transporter A3 (ABCA3). PMID: 21873242
38. SALL4 was able to bind to the promoter region of ABCA3 and activate its expression while regulating the expression of ABCG2 indirectly. PMID: 21526180
39. Suggest that expression of partially or completely endoplasmic reticulum localized ABCA3 mutant proteins can increase the apoptotic cell death of the affected cells. PMID: 21214890
40. Data show that the ABCA3 N-terminus is proteolytically removed inside acidic LAMP3-positive vesicles MVB/LB. PMID: 20863830
41. The segregation of ABCA3 alleles, absence of ABCA3 immunostaining, lung pathology, and ultrastructural findings support genetic ABCA3 deficiency as the cause of lung disease. PMID: 20304423
42. The identification of one copy of this novel mutation in a premature infant with chronic respiratory insufficiency suggests that ABCA3 haploinsufficiency together with lung prematurity may result in more severe, or more prolonged, respiratory failure PMID: 19861431
43. Subclinical fibrotic changes may be present in family members of patients with SFTPC mutation-associated interstitial lung disease and suggest ABCA3 variants could affect disease pathogenesis. PMID: 20371530
44. Decreased ABCA3 expression is associated with breast cancer. PMID: 19902402
45. Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3 PMID: 11940594
46. Results suggest that ABCA3 shows ATPase activity, which is induced by lipids, and may be involved in the biogenesis of lamellar body-like structures. PMID: 15465012
47. ABCA3 is required for lysosomal loading of phosphatidylcholine and conversion of lysosomes to lamellar body-like structures PMID: 16415354
48. ABCA3 has a role in drug resistance in childhood acute myeloid leukemia PMID: 16857811
49. ABCA3 mutation is associated with fatal surfactant deficiency PMID: 16959783
50. ABCA17P & ABCA3 form a complex of overlapping genes at their 5' ends. Non-coding & protein-coding ABC A-transporter RNAs are expressed. This is the 1st demonstration of expression of a pseudogene & its parent from a common overlapping human DNA region. PMID: 16968533

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HGNC: 33

OMIM: 601615

KEGG: hsa:21

STRING: 9606.ENSP00000301732

UniGene: Hs.26630