Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      ATSSCVTSAPEEALRCCRQAGKEDACPEGNGFSYTIEDPALPKGHDDDLT PLEGSLEEMKEAVGLKSTQNKGTTSKISNSSEGEAQSEH
    • Amino acids
      399 to 487
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab153510 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
    • 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

  • ab153510 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab153510 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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