Details for: ABCA3

Gene ID: 21

Symbol: ABCA3

Ensembl ID: ENSG00000167972

Description: ATP binding cassette subfamily A member 3

Associated with

  • Abc-family proteins mediated transport
  • Abc-type xenobiotic transporter activity
  • Abc transporter disorders
  • Abc transporters in lipid homeostasis
  • Alveolar lamellar body
  • Alveolar lamellar body membrane
  • Atpase-coupled transmembrane transporter activity
  • Atp binding
  • Atp hydrolysis activity
  • Cytoplasmic vesicle membrane
  • Defective abca3 causes smdp3
  • Disease
  • Diseases associated with surfactant metabolism
  • Diseases of metabolism
  • Disorders of transmembrane transporters
  • Extracellular space
  • Intermembrane lipid transfer
  • Intracellular membrane-bounded organelle
  • Lamellar body
  • Lamellar body membrane
  • Late endosome
  • Lipid translocation
  • Lipid transport
  • Lipid transporter activity
  • Lung development
  • Lysosomal membrane
  • Metabolism of proteins
  • Multivesicular body membrane
  • Organelle assembly
  • Phosphatidylcholine flippase activity
  • Phosphatidylcholine metabolic process
  • Phosphatidylcholine transfer activity
  • Phosphatidylglycerol metabolic process
  • Phospholipid homeostasis
  • Phospholipid transport
  • Plasma membrane
  • Positive regulation of cholesterol efflux
  • Positive regulation of phospholipid efflux
  • Positive regulation of phospholipid transport
  • Positive regulation of protein homooligomerization
  • Protein metabolic process
  • Regulation of lipid biosynthetic process
  • Regulation of phosphatidylcholine metabolic process
  • Response to glucocorticoid
  • Response to xenobiotic stimulus
  • Surfactant homeostasis
  • Surfactant metabolism
  • Transport of small molecules
  • Xenobiotic export from cell
  • Xenobiotic transmembrane transport
  • Xenobiotic transport
**Summary:** The ABCA3 gene encodes a protein belonging to the ATP-binding cassette subfamily A (ABC) of the ATP-binding cassette family. The ABC family of proteins is involved in the transport of various molecules, including ions, molecules, and proteins between the cell and the extracellular environment. **Key characteristics:** - The ABCA3 protein is a type II transmembrane protein that is expressed in a variety of cell types. - It is a highly conserved protein, with a sequence similar to ABCA1 and ABCA4. - ABCA3 is a multi-pass membrane protein that is composed of eight transmembrane domains. - It is a member of the ATP-binding cassette family of proteins, which are involved in the transport of molecules between the cell and the extracellular environment. **Pathways and functions:** - ABCA3 is involved in a variety of cellular processes, including: - Abc-family proteins mediated transport - Abc-type xenobiotic transporter activity - Abc transporters in lipid homeostasis - Atpase-coupled transmembrane transporter activity - Atp binding - Atp hydrolysis activity - It is also involved in the metabolism of proteins, phosphatidylcholine flippase activity, and phospholipid transfer activity. **Clinical significance:** - Mutations in the ABCA3 gene have been linked to several human diseases, including: - Smdp3 disease - Diseases associated with surfactant metabolism - Diseases of metabolism - Disorders of transmembrane transporters - Lipid transporter activity - Metabolism of proteins

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Only first 5 entries are kept for 'singleCellExpressions', 'mRNAExpressions' and other large data arrays.