What does this protein make up or do? Surfactant dysfunction Chapter 16: Chromosome 16 Name of Protein ATP-binding cassette DNA Sequence Chromosome 64869 16 Name of Gene ABCA3 transcription Amino acid sequence mRNA 290 aa translation Cytoplasm A Cell Nucleus What does this protein make up or do? Its transporters are expressed in liver, intestine, blood brain barrier, placenta and kidney Condition/Disease Surfactant dysfunction

Description of Surfactant Dysfunction Symptoms and characteristics Surfactant dysfunction cause severe, often fatal breathing problems in newborns or gradual onset of milder breathing problems in children or adults. Hard time breathing, lung disease and respiration effecting. The body systems he disease affects are lung, lamellar body membrane and alveoli. Full gene sequence analysis is performed by PCR-based double-stranded automated sequencing in the sense and antisense directions for each exon, plus at least 20 bases into the 5’ and 3’ ends of all the introns.

Description of Surfactant Dysfunction (cont.) Who is affected? Anyone, but the following have a higher risk: New born babies Adults Outlook or quality of life Without treatment, there will be no oxygen throughout the body and can impair brain and organs. With treatment, they will have 90 mg/kg of a calf lung surfactant extract, given intratracheally up to every 6 hours for a maximum of four doses. Treatment affect the disease by showing significant improvement in oxygenation The treatments now will the same available in the future. Researcher: DA

References http://ghr.nlm.nih.gov/gene/ABCA3 Bullard JE et al. ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease. Semin Perinatol. 30:327-334, 2006. [PMID: 17142158] Http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987676/ http://pediatrics.aappublications.org/content/87/1/101.short