Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      DMKYGHLWSVQADSPCVANWPDLLSQCGCGLYNSQEELNWSFLRSTRRPF VPQSCLPHEAVGSASNLTLDCLTAKLSGLQVAVETANLILDLSYVIEDKN
    • Amino acids
      471 to 570
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab159960 in the following tested applications.

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

  • Applications

    ELISA

    Western blot

  • 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
    • Bardet Biedl syndrome 6 protein
    • Bardet-Biedl syndrome 6 protein
    • BBS6
    • HMCS
    • KMS
    • McKusick Kaufman syndrome
    • McKusick Kaufman/Bardet Biedl syndromes putative chaperonin
    • McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
    • Mkks
    • MKKS_HUMAN
    • MKS
    see all
  • Function
    Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis.
  • Tissue specificity
    Widely expressed in adult and fetal tissues.
  • Involvement in disease
    Defects in MKKS are the cause of McKusick-Kaufman syndrome (MKKS) [MIM:236700]. MKKS is an autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects.
    Defects in MKKS are the cause of Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect.
  • Sequence similarities
    Belongs to the TCP-1 chaperonin family.
  • Domain
    The substrate-binding apical domain region is sufficient for centrosomal association.
  • Cellular localization
    Cytoplasm > cytoskeleton > centrosome. Cytoplasm > cytosol. The majority of the protein resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles. During interphase, the protein is confined to the lateral surfaces of the PCM but during mitosis it relocalizes throughout the PCM and is found at the intercellular bridge. The MKSS protein is highly mobile and rapidly shuttles between the cytosol and centrosome.
  • Information by UniProt

Images

  • ab159960 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab159960 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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