You have changed your country from  to  . Please be aware that this will change the currency in the purchasing process.

Overview

  • Product nameABCA12 peptide
  • Protein descriptionSynthetic peptide corresponding to a region within internal sequence amino acids 1979-2028 (TTIFKMLTGD IIPSSGNILI RNKTGSLGHV DSHSSLVGYC PQEDALDDLV) of Human ABCA12 (NP_056472; UniProt ID: Q86UK0 isoform 2).

    • Properties

  • FormLiquid
  • Storage instructionsShipped at 4°C. Store at -20ºC.
  • Storage bufferConstituent: PBS
  • Concentration information loading...
  • Research Areas

    • Applications

    Our Abpromise guarantee covers the use of ab127886 in the following tested applications.

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

    Application Notes
    Blocking BL: Use at an assay dependent concentration.
  • Application notesThis peptide can be used with studies using ab98976.

    • Protein info

    • Alternative names
        ABC transporter A family member 12ABC transporter ABCA.12ABC12
        ABCA12ABCAC_HUMANAtABCA12ATH16ATP binding cassette 12ATP binding cassette sub family A (ABC1) member 12ATP binding cassette sub family A member 12ATP binding cassette transporter 12ATP-binding cassette 12ATP-binding cassette sub-family A member 12ATP-binding cassette transporter 12Ichthyosis congenita II lamellar ichthyosis BICR2BLI2Putative ABC2 homolog 16
      see all
  • FunctionProbable transporter involved in lipid homeostasis.
  • Tissue specificityMainly expressed in the stomach, placenta, testis and fetal brain.
  • Involvement in diseaseDefects in ABCA12 are the cause of ichthyosis harlequin (HI) [MIM:242500]; also known as harlequin fetus. HI is a very severe skin disorder in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period.
    Defects in ABCA12 are the cause of ichthyosis lamellar type 2 (LI2) [MIM:601277]; also known as ichthyosis congenita IIB (ICR2B). LI is a non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms of ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny, translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections.
  • 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.
  • Cellular localizationMembrane.

    • Target information above from: UniProt accession Q86UK0 The UniProt Consortium
    The Universal Protein Resource (UniProt) in 2010
    Nucleic Acids Res. 38:D142-D148 (2010) .

    Information by UniProt

    References for ABCA12 peptide (ab127886)

    ab127886 has not yet been referenced specifically in any publications.

    Publishing research using ab127886 ? Please let us know so that we can cite the reference in this datasheet

    Product Wall

    Submit an Abreview for ab127886 Submit a Question for ab127886

    There are currently no Abreviews or Questions for ab127886.
    Please use the links above to contact us or submit feedback about this product.

    Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"