The gene encoding the hydrophobic surfactant protein SP-C is located on 8p and identifies an EcoRI RFLP.
Pulmonary surfactant is composed primarily of phospholipids but also contains three known surfactant-specific proteins. These proteins are important in determining the physical properties of pulmonary surfactant--including its ability to adsorb to an air-liquid interface and its structure--but also appear to influence surfactant metabolism. We have previously assigned two surfactant proteins, SP-A (a 28-36-kDa glycoprotein) and SP-B (an 18-kDa hydrophobic protein), to the short arm of chromosome 10 and to chromosome 2, respectively. We now report that the gene encoding the 5-8 kDa hydrophobic surfactant protein SP-C is located on the short arm of chromosome 8. A cDNA clone encoding the entire protein recognizes a useful EcoRI restriction-site-length polymorphism. Evaluation of congenital syndromes manifesting autosomal abnormalities does not further elucidate the functional role of this protein in promoting normal respiratory physiology.
D000818:Animals; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D006224:Cricetinae; D004247:DNA / Q000235:genetics; D015246:Deoxyribonuclease EcoRI; D006801:Humans; D006822:Hybrid Cells; D007621:Karyotyping; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011510:Proteolipids / Q000235:genetics*; D011663:Pulmonary Surfactants / Q000235:genetics*
D011510:Proteolipids; D011663:Pulmonary Surfactants; D004247:DNA; D015246:Deoxyribonuclease EcoRI