Genetics of the hydrophobic surfactant proteins

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Abstract

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. Copyright (C) 1998 Elsevier Science B.V.

Original languageEnglish (US)
Pages (from-to)323-333
Number of pages11
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Volume1408
Issue number2-3
DOIs
Publication statusPublished - Nov 19 1998

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Keywords

  • Alveolar proteinosis
  • Bronchopulmonary dysplasia
  • Hyaline membrane disease
  • Interstitial lung disease
  • Polymorphism
  • Prematurity
  • Respiratory distress syndrome
  • Surfactant protein

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Biophysics

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