Genetics of the hydrophobic surfactant proteins

Biochim Biophys Acta. 1998 Nov 19;1408(2-3):323-33. doi: 10.1016/s0925-4439(98)00078-7.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Chromosomes, Human, Pair 2
  • Chromosomes, Human, Pair 8
  • Humans
  • Infant, Newborn
  • Lung Diseases / genetics
  • Polymorphism, Genetic
  • Proteolipids / genetics*
  • Pulmonary Surfactants / genetics*
  • Respiratory Distress Syndrome, Newborn / genetics


  • Proteolipids
  • Pulmonary Surfactants