Overview

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      MEEGSSSPVSPVDSLGTSEEELERQPKRFGRKRRYSKKSSEDGSPTPGKR GKKGSPSAQSFEELQSQRILANVRERQRTQSLNEAFAALRKIIPTLPSDK LSKIQTLKLAARYIDFLYQVLQSDEMDNKMTSCSYVAHERLSYAFSVWRM EGSWSMSASH
    • Molecular weight

      43 kDa including tags
    • Amino acids

      1 to 160

Specifications

Our Abpromise guarantee covers the use of ab132641 in the following tested applications.

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

  • Applications

    SDS-PAGE

    Western blot

    ELISA

  • 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.
  • 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

    • bHLHa39
    • Class A basic helix-loop-helix protein 39
    • Dermis expressed protein 1
    • Dermis-expressed protein 1
    • DERMO 1
    • Dermo-1
    • DERMO1
    • MGC117334
    • Twist 2
    • Twist homolog 2
    • Twist homolog 2 (Drosophila)
    • Twist related bHLH protein Dermo1
    • Twist related protein 2
    • Twist-related protein 2
    • Twist2
    • TWST2_HUMAN
    see all
  • Function

    Binds to the E-box consensus sequence 5'-CANNTG-3' as a heterodimer and inhibits transcriptional activation by MYOD1, MYOG, MEF2A and MEF2C. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Involved in postnatal glycogen storage and energy metabolism (By similarity). Inhibits the premature or ectopic differentiation of preosteoblast cells during osteogenesis, possibly by changing the internal signal transduction response of osteoblasts to external growth factors.
  • Tissue specificity

    In the embryo, highly expressed in chondrogenic cells. In embryonic skin, expressed in the undifferentiated mesenchymal layer beneath the epidermis which later develops into the dermis. Expressed in early myeloid cells but not in lymphoid cells in the liver. Expression also detected in the secretory ependymal epithelium of the choroid plexus primordium. In the adult, expressed in secreting glandular tissues and tubules.
  • Involvement in disease

    Defects in TWIST2 are the cause of Setleis syndrome (SETLEISS) [MIM:227260]. A focal facial dermal dysplasia characterized by distinctive bitemporal scar-like depressions resembling forceps marks, and additional facial features, including a coarse and leonine appearance, absent eyelashes on both lids or multiple rows on the upper lids, absent Meibomian glands, slanted eyebrows, chin clefting, and hypo- or hyperpigmentation of the skin. Histologically, the bitemporal lesion is an ectodermal dysplasia with near absence of subcutaneous fat, suggesting insufficient migration of neural crest cells into the frontonasal process and the first branchial arch.
  • Sequence similarities

    Contains 1 basic helix-loop-helix (bHLH) domain.
  • Cellular localization

    Nucleus. Cytoplasm. Mainly nuclear during embryonic development. Cytoplasmic in adult tissues.
  • Information by UniProt

Images

  • 12.5% SDS-PAGE analysis of ab132641 stained with Coomassie Blue.

References

ab132641 has not yet been referenced specifically in any publications.

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