Gene: ABCA3

Alternate names for this Gene: ABC-C|ABC3|EST111653|LBM180|SMDP3

Gene Summary: 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. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: ATP binding cassette subfamily A member 3

Type of Gene: protein-coding

rs2238464 in ABCA3 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs149989682 in ABCA3 gene and Hamman-Rich syndrome PMID 24136335 2014 Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.

PMID 23166334 2012 Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

PMID 25553246 2014 Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.

PMID 22800827 2012 Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants.

PMID 24871971 2014 Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

PMID 18317237 2008 Population and disease-based prevalence of the common mutations associated with surfactant deficiency.

PMID 18246475 2008 Haplotype analysis of ABCA3: association with respiratory distress in very premature infants.

PMID 22145626 2012 ATP-binding cassette member A3 (E292V) gene mutation and pulmonary morbidity in very-low-birth-weight infants.

PMID 22866751 2012 Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.

PMID 15976379 2005 ABCA3 mutations associated with pediatric interstitial lung disease.

PMID 18676873 2008 Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.

PMID 22435821 2012 Structural and dynamic aspects of Ca2+ and Mg2+ binding of the regulatory domains of the Na+/Ca2+ exchanger.

PMID 25073622 2014 Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks).

PMID 18603241 2008 Cerebropulmonary dysgenetic syndrome.

PMID 22304854 2012 A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.

PMID 17597647 2007 Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation.

PMID 18024538 2008 Clinical, radiological and pathological features of ABCA3 mutations in children.

rs121909182 in ABCA3 gene and Surfactant Metabolism Dysfunction, Pulmonary, 3 PMID 15044640 2004 ABCA3 gene mutations in newborns with fatal surfactant deficiency.

PMID 15976379 2005 ABCA3 mutations associated with pediatric interstitial lung disease.

PMID 22304854 2012 A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.

PMID 18317237 2008 Population and disease-based prevalence of the common mutations associated with surfactant deficiency.

PMID 18676873 2008 Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.

PMID 24871971 2014 Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

PMID 29505158 2018 ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.

PMID 22434821 2012 Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation.

PMID 23166334 2012 Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

PMID 22866751 2012 Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.

PMID 27374344 2016 Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.

rs45452892 in ABCA3 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.