Details for: ABCA4

Gene ID: 24

Symbol: ABCA4

Ensembl ID: ENSG00000198691

Description: ATP binding cassette subfamily A member 4

Associated with

  • 11-cis retinal binding
  • Abc-family proteins mediated transport
  • Abc-type transporter activity
  • All-trans retinal binding
  • Atpase-coupled intramembrane lipid transporter activity
  • Atpase-coupled transmembrane transporter activity
  • Atp binding
  • Atp hydrolysis activity
  • Cytoplasmic vesicle
  • Disease
  • Diseases associated with visual transduction
  • Diseases of the neuronal system
  • Endoplasmic reticulum
  • Flippase activity
  • Gtpase activity
  • Intracellular membrane-bounded organelle
  • Lipid transport
  • Membrane
  • N-retinylidene-phosphatidylethanolamine flippase activity
  • Phosphatidylethanolamine flippase activity
  • Phospholipid transfer to membrane
  • Phospholipid translocation
  • Phospholipid transporter activity
  • Photoreceptor cell maintenance
  • Photoreceptor disc membrane
  • Photoreceptor outer segment
  • Phototransduction, visible light
  • Plasma membrane
  • Retinal metabolic process
  • Retinoid binding
  • Retinoid cycle disease events
  • Retinoid metabolic process
  • Retinol transmembrane transporter activity
  • Retinol transport
  • Rod photoreceptor disc membrane
  • Sensory perception
  • The canonical retinoid cycle in rods (twilight vision)
  • Transmembrane transport
  • Transport of small molecules
  • Visual perception
  • Visual phototransduction
**Summary:** The ABCA4 gene encodes a protein that is a member of the ATP-binding cassette subfamily A (ABC) of transporters. The ABC family of proteins is involved in the transport of small molecules across cellular membranes. **Key characteristics:** * The ABCA4 gene is located on chromosome 19q31.1. * It is a highly expressed gene in many cell types, including megakaryocytes, hematopoietic stem cells, non-pigmented ciliary epithelial cells, pigmented ciliary epithelial cells, photoreceptor cells, and retinal rod cells. * The protein encoded by ABCA4 is a transmembrane protein with a molecular weight of approximately 130 kDa. * It is a glycoprotein that is expressed on the surface of cells and is involved in the transport of small molecules into and out of the cell. **Pathways and functions:** * The ABCA4 protein is involved in multiple cellular pathways, including the 11-cis retinal binding, Abc-family proteins mediated transport, All-trans retinal binding, Atpase-coupled transmembrane transporter activity, Atp binding, Atp hydrolysis activity, Disease, Diseases associated with visual transduction, Diseases of the neuronal system, Gtpase activity, Phosphatidylethanolamine flippase activity, Phospholipid transporter activity, Retinoid binding, Retinoid cycle disease events, Retinol transmembrane transporter activity, Sensory perception, and the canonical retinoid cycle in rods (twilight vision). **Clinical significance:** * Mutations in the ABCA4 gene have been linked to several human diseases, including retinal dystrophies. * These diseases are characterized by the degeneration of retinal rod cells, which are responsible for vision in dim light conditions. * Targeting ABCA4 has been explored as a therapeutic strategy for these diseases.


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