Overview

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      MAAPILKDVVAYVEVWSSNGTENYSKTFTTQLVDMGAKVSKTFNKQVTHV IFKDGYQSTWDKAQKRGVKLVSVLWVEKCRTAGAHIDESLFPAANMNEHL SSLIKKKRKCMQPKDFNFKTPENDKRFQKKFEKMAKELQRQKTNLDDDVP ILLFESNGSLIYTPTIEINSSHHSAMEKRLQEMKEKRENLSPTSSQMIQQ SHDNPSNSLCEAPLNISRDTLCSDEYFAGGLHSSFDDLCGNSGCGNQERK LEGSINDIKSDVCISSLVLKANNIHSSPSFTHLDKSSPQKFLSNLSKEEI NLQRNIAGKVVTPHQKQAAGMSQETFEEKYRLSPTLSSTKGHLLIHSRPR SSSVKRKRVSHGSHSPPKEKCKRKRSTRRSIMPRLQLCRSEGRLQHVAGP ALEALSCGESSYDDYFSPDNLKERYSENLPPESQLPSSPAQLSCRSLSKK ERTSIFEMSDFSCVGKKTRTVDITNFTAKTISSPRKTGNGEGRATSSCVT SAPEEALRCCRQAGKEDACPEGNGFSYTIEDPALPKGHDDDLTPLEGSLE EMKEAVGLKSTQNKGTTSKISNSSEGEAQSEHEPCFIVDCNMETSTEEKE NLPGGYSGSM
    • Molecular weight

      94 kDa including tags
    • Amino acids

      1 to 610

Specifications

Our Abpromise guarantee covers the use of ab131875 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

    SDS-PAGE

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.

     This product was previously labelled as BRIT1

     

  • 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

    • BRCT repeat inhibitor of TERT expression 1
    • BRIT 1
    • FLJ12847
    • Hypothetical protein FLJ12847
    • MCPH 1
    • MCPH1
    • MCPH1_HUMAN
    • MCT
    • Microcephalin
    • Microcephalin 1
    • Microcephaly primary autosomal recessive 1
    see all
  • Function

    Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.
  • Tissue specificity

    Expressed in fetal brain, liver and kidney.
  • Involvement in disease

    Defects in MCPH1 are the cause of microcephaly primary type 1 (MCPH1) [MIM:251200]; also known as true microcephaly or microcephaly vera. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. This entity is inherited as autosomal recessive trait.
  • Sequence similarities

    Contains 3 BRCT domains.
  • Cellular localization

    Cytoplasm > cytoskeleton > centrosome.
  • Information by UniProt

Images

  • 12.5% SDS-PAGE analysis of ab131875 stained with Coomassie Blue.

References

ab131875 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

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