功能： disease:Genetic variations in SFTPA1 are associated with respiratory distress syndrome in premature infants (RDS) [MIM:267450]; also known as RDS in prematurity. RDS in the newborn is the main cause of mortality and morbidity in premature infants. RDS is characterized by deficient gas exchange that is caused by diffuse atelectasis and high-permeability lung edema that results in fibrin-rich alveolar deposits called 'hyaline membranes'. The risk of bronchopulmonary dysplasia increases with the severity of RDS.,function:In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration.,miscellaneous:Pulmonary surfactant consists of 90% lipid and 10% protein. There are 4 surfactant-associated proteins: 2 collagenous, carbohydrate-binding glycoproteins (SP-A and SP-D) and 2 small hydrophobic proteins (SP-B and SP-C).,online information:Pulmonary surfactant protein SP-A1,polymorphism:A polymorphism in the SFTPA1 gene influences susceptibility to idiopathic pulmonary fibrosis [MIM:178500]. This polymorphism was associated with idiopathic pulmonary fibrosis in nonsmokers but not in smokers.,polymorphism:At least 5 allelic variants of SFTPA1 are known: 6A, 6A(2), 6A(3), 6A(4) and 6A(5). The sequence shown is that of allele 6A(3).,similarity:Belongs to the SFTPA family.,similarity:Contains 1 C-type lectin domain.,similarity:Contains 1 collagen-like domain.,subunit:Oligomeric complex of 6 set of homotrimers.,
功能： disease:Genetic variations in SFTPA1 are associated with respiratory distress syndrome in premature infants (RDS) [MIM:267450]; also known as RDS in prematurity. RDS in the newborn is the main cause of mortality and morbidity in premature infants. RDS is characterized by deficient gas exchange that is caused by diffuse atelectasis and high-permeability lung edema that results in fibrin-rich alveolar deposits called 'hyaline membranes'. The risk of bronchopulmonary dysplasia increases with the severity of RDS.,function:In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration.,miscellaneous:Pulmonary surfactant consists of 90% lipid and 10% protein. There are 4 surfactant-associated proteins: 2 collagenous, carbohydrate-binding glycoproteins (SP-A and SP-D) and 2 small hydrophobic proteins (SP-B and SP-C).,online information:Pulmonary surfactant protein SP-A1,polymorphism:A polymorphism in the SFTPA1 gene influences susceptibility to idiopathic pulmonary fibrosis [MIM:178500]. This polymorphism was associated with idiopathic pulmonary fibrosis in nonsmokers but not in smokers.,polymorphism:At least 5 allelic variants of SFTPA1 are known: 6A, 6A(2), 6A(3), 6A(4) and 6A(5). The sequence shown is that of allele 6A(3).,similarity:Belongs to the SFTPA family.,similarity:Contains 1 C-type lectin domain.,similarity:Contains 1 collagen-like domain.,subunit:Oligomeric complex of 6 set of homotrimers.,
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