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 s...

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Bibliographic Details
Published in:BBA - Molecular Basis of Disease 1998-11, Vol.1408 (2), p.323-333
Main Author: Nogee, Lawrence M.
Format: Article
Language:English
Subjects:
Alveolar proteinosis
Bronchopulmonary dysplasia
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 8
Humans
Hyaline membrane disease
Infant, Newborn
Interstitial lung disease
Lung Diseases - genetics
Polymorphism
Polymorphism, Genetic
Prematurity
Proteolipids - genetics
Pulmonary Surfactants - genetics
Respiratory distress syndrome
Respiratory Distress Syndrome, Newborn - genetics
Surfactant protein
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Summary: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.
ISSN:0925-4439
0006-3002
1879-260X
DOI:10.1016/S0925-4439(98)00078-7