Overview

Description

  • NatureRecombinant
  • SourceEscherichia coli
  • Amino Acid Sequence
    • AccessionQ84M24
    • SpeciesHuman
    • SequenceNCALSVVKEGRSVVLTSHSMEECEALCTRMAIMVNGRFRCLGSVQHLKNR FGDGYTIVVRIAGSNPDLKPVQDFFGLAFPGSVLKEKHRNMLQYQLPSSL SSLARIFSILSQSKKRLHIEDYSVSQTTLDQVFVNFAKDQSDDDHLKDLS LHKNQTVVDVA
    • Amino acids2085 to 2245

Specifications

Our Abpromise guarantee covers the use of ab125995 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    SDS-PAGE

  • FormLyophilised
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at -20°C.

    Constituents: 0.32% Tris HCl, 0.58% Sodium chloride, 0.2% Guanidine HCl

  • ReconstitutionReconstitute with water to desired concentration.

General Info

  • Alternative names
    • ABC 1
    • ABC Transporter 1
    • ABC-1
    • ABC1
    • ABCA 1
    • ABCA1
    • ABCA1_HUMAN
    • ATP binding Cassette 1
    • ATP binding cassette sub family A ABC1 member 1
    • ATP binding cassette sub family A member 1
    • ATP binding Cassette Transporter 1
    • ATP-binding cassette 1
    • ATP-binding cassette sub-family A member 1
    • ATP-binding cassette transporter 1
    • CERP
    • Cholesterol efflux regulatory protein
    • FLJ14958
    • HDLDT1
    • Membrane bound
    • MGC164864
    • MGC165011
    • TD
    • TGD
    see all
  • FunctioncAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport.
  • Tissue specificityWidely expressed, but most abundant in macrophages.
  • Involvement in diseaseDefects in ABCA1 are a cause of high density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]; also known as analphalipoproteinemia or Tangier disease (TGD). HDLD1 is a recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness.
    Defects in ABCA1 are a cause of high density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]; also known as familial hypoalphalipoproteinemia (FHA). HDLD2 is inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux.
  • Sequence similaritiesBelongs to the ABC transporter superfamily. ABCA family.
    Contains 2 ABC transporter domains.
  • DomainMultifunctional polypeptide with two homologous halves, each containing an hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
  • Post-translational
    modifications
    Phosphorylation on Ser-2054 regulates phospholipid efflux.
    Palmitoylation by DHHC8 is essential for membrane localization.
  • Cellular localizationMembrane.
  • Information by UniProt

References for Recombinant Human ABCA1 protein (ab125995)

ab125995 has not yet been referenced specifically in any publications.

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