功能： disease:Defects in ABCA3 are the cause of pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]; also called pulmonary alveolar proteinosis due to ABCA3 deficiency. 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 non-specific interstitial pneumonitis (NSIP).,domain:Multifunctional polypeptide with two homologous halves, each containing an hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.,function:Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol.,similarity:Belongs to the ABC transporter family.,similarity:Belongs to the ABC transporter family. ABCA subfamily.,similarity:Contains 2 ABC transporter domains.,tissue specificity:Highly expressed in lung, followed by brain, pancreas, skeletal muscle and heart. Weakly expressed in placenta, kidney and liver. Also expressed in medullary thyroid carcinoma cells (MTC) and in C-cell carcinoma.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Endosome, multivesicular body membrane ; Multi-pass membrane protein . Cytoplasmic vesicle membrane . Late endosome membrane . Lysosome membrane . Localized in the limiting membrane of lamellar bodies in lung alveolar type II cells (PubMed:22673903, PubMed:16959783, PubMed:24142515, PubMed:27177387, PubMed:11718719). Trafficks via the Golgi, sorting vesicles (SVs) and late endosome/multivesicular body network directly to the outer membrane of lamellar bodies in AT2 lung epithelial cells or to lysosomes and lysosomal-related organelles (LROs) in other cells where undergoes proteolytic cleveage and oligosaccharide processing from high mannose type to complex type (PubMed:24142515, PubMed:20863830, PubMed:16959783, PubMed:27177387). Oligomers formation takes place in a post-endoplasmic reticulum compartment (PubMed:27352740). .
组织表达： Expressed in brain, pancreas, skeletal muscle and heart (PubMed:8706931). Highly expressed in the lung in an AT2-cell-specific manner (PubMed:11718719, PubMed:8706931). Weakly expressed in placenta, kidney and liver (PubMed:8706931). Also expressed in medullary thyroid carcinoma cells (MTC) and in C-cell carcinoma (PubMed:8706931).
科研货号： PLA006332
ABCA3 Polyclonal Antibody
Catalog NoPLA006332
Product information
基因名称： ABCA3 ABC3
蛋白名称： ATP-binding cassette sub-family A member 3 (ABC-C transporter) (ATP-binding cassette transporter 3) (ATP-binding cassette 3)
功能： disease:Defects in ABCA3 are the cause of pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]; also called pulmonary alveolar proteinosis due to ABCA3 deficiency. 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 non-specific interstitial pneumonitis (NSIP).,domain:Multifunctional polypeptide with two homologous halves, each containing an hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.,function:Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol.,similarity:Belongs to the ABC transporter family.,similarity:Belongs to the ABC transporter family. ABCA subfamily.,similarity:Contains 2 ABC transporter domains.,tissue specificity:Highly expressed in lung, followed by brain, pancreas, skeletal muscle and heart. Weakly expressed in placenta, kidney and liver. Also expressed in medullary thyroid carcinoma cells (MTC) and in C-cell carcinoma.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Endosome, multivesicular body membrane ; Multi-pass membrane protein . Cytoplasmic vesicle membrane . Late endosome membrane . Lysosome membrane . Localized in the limiting membrane of lamellar bodies in lung alveolar type II cells (PubMed:22673903, PubMed:16959783, PubMed:24142515, PubMed:27177387, PubMed:11718719). Trafficks via the Golgi, sorting vesicles (SVs) and late endosome/multivesicular body network directly to the outer membrane of lamellar bodies in AT2 lung epithelial cells or to lysosomes and lysosomal-related organelles (LROs) in other cells where undergoes proteolytic cleveage and oligosaccharide processing from high mannose type to complex type (PubMed:24142515, PubMed:20863830, PubMed:16959783, PubMed:27177387). Oligomers formation takes place in a post-endoplasmic reticulum compartment (PubMed:27352740). .
组织表达： Expressed in brain, pancreas, skeletal muscle and heart (PubMed:8706931). Highly expressed in the lung in an AT2-cell-specific manner (PubMed:11718719, PubMed:8706931). Weakly expressed in placenta, kidney and liver (PubMed:8706931). Also expressed in medullary thyroid carcinoma cells (MTC) and in C-cell carcinoma (PubMed:8706931).
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