Overview

  • Product name

    Recombinant Human XPD protein
  • Protein length

    Full length protein

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      MRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQRAYPLEVTKLIYCS RTVPEIEKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPEVTPL RFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGI YNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKE LARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIK ETDEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVPGSIR TAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSGLAQRVCIQRKPLRF CAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGQAQHCGSSRNQ KRSHP
    • Molecular weight

      70 kDa including tags
    • Amino acids

      1 to 405

Associated products

Specifications

Our Abpromise guarantee covers the use of ab132967 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 ug/ul.
  • 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

    • TFIIH 80 kDa subunit
    • Basic transcription factor 2 80 kDa subunit
    • BTF2 p80
    • COFS 2
    • COFS2
    • CXPD
    • DNA excision repair protein ERCC 2
    • DNA excision repair protein ERCC-2
    • DNA repair protein complementing XP D cells
    • DNA repair protein complementing XP-D cells
    • EM9
    • ERCC 2
    • ERCC2
    • ERCC2_HUMAN
    • Excision repair 2
    • Excision repair cross complementing rodent repair deficiency complementation
    • Excision repair cross complementing rodent repair deficiency, complementation group 2
    • MAG
    • MGC102762
    • MGC126218
    • MGC126219
    • OTTHUMP00000045860
    • OTTHUMP00000045861
    • OTTHUMP00000045862
    • OTTHUMP00000045863
    • TFIIH 80 kDa subunit
    • TFIIH basal transcription factor complex 80 kDa subunit
    • TFIIH Basal Transcription Factor Complex Helicase Subunit
    • TFIIH basal transcription factor complex helicase XPD subunit
    • TFIIH basal transcription factor complex p80 subunit
    • TFIIH p80
    • TTD
    • Xeroderma pigmentosum complementary group D
    • Xeroderma pigmentosum group D complementing protein
    • Xeroderma pigmentosum group D-complementing protein
    • XPD
    • XPDC
    see all
  • Function

    ATP-dependent 5'-3' DNA helicase, component of the core-TFIIH basal transcription factor. Involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers.
  • Involvement in disease

    Defects in ERCC2 are the cause of xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]; also known as XP group D (XPD). Xeroderma pigmentosum is an autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. Some XP-D patients present features of Cockayne syndrome, including dwarfism, sensorineural deafness, microcephaly, mental retardation, pigmentary retinopathy, ataxia, decreased nerve conduction velocities.
    Defects in ERCC2 are a cause of trichothiodystrophy photosensitive (TTDP) [MIM:601675]. TTDP is an autosomal recessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER) defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype. There are no reports of skin cancer associated with TTDP.
    Defects in ERCC2 are the cause of cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756]. COFS is a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the skull, eyes, limbs, heart and kidney also occur.
  • Sequence similarities

    Belongs to the helicase family. RAD3/XPD subfamily.
    Contains 1 helicase ATP-binding domain.
  • Post-translational
    modifications

    ISGylated.
  • Cellular localization

    Nucleus. Cytoplasm > cytoskeleton > spindle.
  • Information by UniProt

Images

  • 12.5% SDS-PAGE analysis of ab132967 stained with Coomassie Blue.

References

ab132967 has not yet been referenced specifically in any publications.

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