ABCMdb

PMID: 26517903

Peca D, Cutrera R, Masotti A, Boldrini R, Danhaive O
ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system.
Biochem Soc Trans. 2015 Oct 1;43(5):913-9. doi: 10.1042/BST20150100., [PubMed]

Sentences

No. Mutations Sentence Comment

72 ABCA3 p.Glu292Val In another large series of children with chronic interstitial lung disease, whereas the most frequent variants were mutations of SFTPC (the SP-C-encoding gene), 10 infants were compound heterozygous carriers of the same p.Glu292Val ABCA3 mutation, which appears to be more frequent and associated with a less severe phenotype [25]. Login to comment 85 ABCA3 p.Glu292Val The p.Glu292Val mutation, located on the intracellular loop 1 (ICL1) that mediates ATP-driven conformational change of the first transmembrane complex, results in moderately impaired lipid transfer into LBs and is indeed associated with a less severe, chronic interstitial lung disease phenotype [44]. Login to comment 94 ABCA3 p.Glu292Val The p.Glu292Val allele, which is carried by 1.3% of the Danish general population, resulted in a 5% FEV1 (forced expiratory Figure 2 Distribution of amino acid substitutions due to ABCA3 mutations The ABCA3 protein structure includes two transmembrane complexes composed of six domains each, coupled with two NBDs (NBD1 and 2) each containing two Walker domains A and B facing the cytosol and one major and two minor ECDs for each transmembrane complex (ECD1-3 and ECD4-6) facing the LB inner compartment. Login to comment 100 ABCA3 p.Glu292Val The impact of p.Glu292Val was also studied in a German cohort of >3000 very-low-birth-weight infants, showing no measurable difference on pulmonary outcome [49]. Login to comment