Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MEGQDEVSAREQHFHSQVRESTICFLLFAILYVVSYFIITRYKRKSDEQE DEDAIVNRISLFLSTFTLAVSAGAVLLLPFSIISNEILLSFPQNYYIQWL NGSLIHGLWNLASLFSNLCLFVLMPFAFFFLESEGFAGLKKGIRARILET LVMLLLLALLILGIVWVASALIDNDAASMESLYDLWEFYLPYLYSCISLM GCLLLLLCTPVGLSRMFTVMGQLLVKPTILEDLDEQIYIITLEEEALQRR LNGLSSSVEYNIMELEQELENVKTLKTKLERRKKASAWERNLVYPAVMVL LLIETSISVLLVACNILCLLVDETAMPKGTRGPGIGNASLSTFGFVGAAL EIILIFYLMVSSVVGFYSLRFFGNFTPKKDDTTMTKIIGNCVSILVLSSA LPVMSRTLGITRFDLLGDFGRFNWLGNFYIVLSYNLLFAIVTTLCLVRKF TSAVREELFKALGLHKLHLPNTSRDSETAKPSVNGHQKAL
    • Amino acids
      1 to 490
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab163818 in the following tested applications.

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

  • Applications

    Western blot

    ELISA

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • ACHP
    • C7orf2
    • DIF 14
    • DIF14
    • Differentiation related gene 14
    • Differentiation related gene 14 protein
    • Differentiation-related gene 14 protein
    • FLJ11665
    • Limb region 1 homolog
    • Limb region 1 homolog (mouse)
    • Limb region 1 protein
    • Limb region 1 protein homolog
    • LMBR 1
    • LMBR1
    • LMBR1_HUMAN
    • OTTHUMP00000211720
    • PPD 2
    • PPD2
    • TPT
    see all
  • Function
    Putative membrane receptor.
  • Tissue specificity
    Widely expressed with strongest expression in heart and pancreas.
  • Involvement in disease
    Defects in LMBR1 are associated with preaxial polydactyly type 2 (PPD2) [MIM:174500]; also known as polydactyly of triphalangeal thumb. Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal. The mutations do not change the normal expression of LMBR1, but alter the expression of SHH by disrupting a long-range, cis-regulatory element of that gene.
    Defects in LMBR1 are the cause of acheiropody (ACHP) [MIM:200500]. Acheiropody is a very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of all the bones of the hands and feet. This syndrome of autosomal recessive inheritance has only been observed in Brazil so far.
    Defects in LMBR1 are a cause of syndactyly type 4 (SDYT4) [MIM:186200]. SDYT4 is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. The condition is inherited as an autosomal dominant trait.
  • Sequence similarities
    Belongs to the LIMR family.
  • Cellular localization
    Membrane.
  • Information by UniProt

Images

  • ab163818 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab163818 has not yet been referenced specifically in any publications.

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

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