Overview

  • Product name

    Recombinant Human RECQL4 protein
  • Protein length

    Protein fragment

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      MTRKQRESVLQKIRAAQVHVLMLTPEALVGAGGLPPAAQLPPVAFACIDE AHCLSQWSHNFRPCYLRVCKVLRERMGVHCFLGLTATATRRTASDVAQHL AVAEEPDLHGPAPVPTNLHLSVSMDRDTDQALLTLLQGKRFQNLDSIIIY CNRREDTERIAALLRTCLHAAWVPGSGGRAPKTTAEAYHAGMCSRERRRV QRAFMQGQLRVVVATVAFGMGLDRPDVRAVLHLGLPPSFESYVQAVGRAG RDGQPAHCHLFLQPQGEDLRELRRHVHADSTDFLAVKRLVQRVFPACTCT CTRPPSEQEGAVGGERPVPKYPPQEAEQLSHQAAPGPRRVCMGHERALPI QLTVQALDMPEEAIETLLCYLELHPHHWLELLATTYTHCRLNCPGGPAQL QALAHRCPPLAVCLAQQLPEDPGQGSSSVEFDMVKLVDSMGWELASVRRA LCQLQWDHEPRTGVRRGTGVLVEFSELAFHLRSPGDLTAEEKDQICDFLY GRVQARERQALARLRRTFQAFHSVAFPSCGPCLEQQDEERSTRLKDLLGR YFEEEEGQEPGGMEDAQGPEPGQARLQDWEDQVRCDIRQFLSLRPEEKFS SRAVARIFHGIGSPCYPAQVYGQDRRFWRKYLHLSFHALVGLATEELLQV AR
    • Molecular weight

      97 kDa including tags
    • Amino acids

      557 to 1208

Specifications

Our Abpromise guarantee covers the use of ab132271 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. This protein is best used within three months from the date of receipt.

    Previously labelled as RECQ4. 

  • 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

    • ATP dependent DNA helicase Q4
    • ATP-dependent DNA helicase Q4
    • DNA helicase
    • DNA helicase, RecQ like type 4
    • RECQ 4
    • RECQ L4
    • RecQ protein 4
    • RecQ protein like 4
    • RecQ protein-like 4
    • RecQ-like type 4
    • RecQ4
    • RECQ4_HUMAN
    • RECQL 4
    • RECQL4
    • RTS
    see all
  • Function

    DNA-dependent ATPase. May modulate chromosome segregation.
  • Tissue specificity

    Ubiquitously expressed, with highest levels in thymus and testis.
  • Involvement in disease

    Defects in RECQL4 are a cause of Rothmund-Thomson syndrome (RTS) [MIM:268400]. A disease characterized by dermatological features such as atrophy, pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism.
    Defects in RECQL4 are a cause of RAPADILINO syndrome (RAPADILINOS) [MIM:266280]. A disease characterized by radial and patellar aplasia or hypoplasia.
    Defects in RECQL4 are a cause of Baller-Gerold syndrome (BGS) [MIM:218600]; also known as craniosynostosis with radial defects. BGS is an autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome. BGS is part of the clinical spectrum of Rothmund-Thomson and RAPADILINO syndromes.
  • Sequence similarities

    Belongs to the helicase family. RecQ subfamily.
    Contains 1 helicase ATP-binding domain.
    Contains 1 helicase C-terminal domain.
  • Cellular localization

    Cytoplasm. Nucleus.
  • Information by UniProt

Images

  • 12.5% SDS-PAGE analysis of ab132271 stained with Coomassie Blue.

References

ab132271 has not yet been referenced specifically in any publications.

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