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Browse result for Pulmonary surfactant metabolism dysfunction

※ introduction

    Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular nonspecific interstitial pneumonitis (NSIP) (Clark and Clark, 2005).

Reference
OMIM: Pulmonary surfactant metabolism dysfunction



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD04091P116866440
SFTPC
Surfactant protein C )
Homo sapiens
PTMD11888Q9975821
ABCA3
Phospholipid-transporting ATPase ABCA3 [Cleaved into: 150 Kda mature form]
Homo sapiens