Genetics of the hydrophobic surfactant proteins.
The hydrophobic surfactant proteins, SP-B and SP-C, serve important roles in surfactant function and metabolism. Both proteins are encoded by single genes, located on human chromosomes 2 and 8 respectively, which have been characterized and extensively studied. Mutations in the SP-B gene have been shown to cause severe lung disease, and polymorphisms in the SP-B gene may be associated with the development of RDS in premature infants. In contrast, mutations in the SP-C gene have not yet been identified or shown to cause lung disease, although given the apparent importance of SP-C in surfactant function, this remains a possibility.
Nogee
L M
LM
Division of Neonatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. lnogee@welchlink.welch.jhu.edu
D002889:Chromosomes, Human, Pair 2; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D007231:Infant, Newborn; D008171:Lung Diseases / Q000235:genetics; D011110:Polymorphism, Genetic; D011510:Proteolipids / Q000235:genetics*; D011663:Pulmonary Surfactants / Q000235:genetics*; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics
D011510:Proteolipids; D011663:Pulmonary Surfactants