製品の概要

製品の詳細

  • 由来Recombinant
  • 由来Wheat germ
  • アミノ酸配列
    • アクセッション番号Q494Z3
    • 生物種Human
    • 配列MTTLAGAVPRMMRPGPGQNYPRSGFPLEVSTPLGQGRVNQLGGVFINGRP LPNHIRHKIVEMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGA IGGSKPKQVTTPDVEKKIEEYKRENPGMFSWEIRDKLLKDAVCDRNTVPS VSSISRILRSKFGKGEEEEADLERKEAEESEKKAKHSIDGILSERASAPQ SDEGSDIDSEPDLPLKRKQRRSRTTFTAEQLEELERAFERTHYPDIYTRE ELAQRAKLTEARVQVWFSNRRARWRKQAGANQLMAFNHLIPGGFPPTAMP TLPTYQLSETSYQPTSIPQAVSDPSSTVHRPQPLPPSTVHQSTIPSNPDS SSAYCLPSTRHGFSSYTDSFVPPSGPSNPMNPTIGNGLSPQVMGLLTNHG GVPHQPQTDYALSPLTGGLEPTTTVSASCSQRLDHMKSLDSLPTSQSYCP PTYSTTGYSMDPVTGYQYGQYGQSAFHYLKPDIA
    • 分子量79 kDa including tags
    • 領域1 to 484

関連製品

特性

Our Abpromise guarantee covers the use of ab114320 in the following tested applications.

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

  • アプリケーション

    ELISA

    SDS-PAGE

    Western blot

  • 製品の状態Liquid
  • 備考Protein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

関連情報

  • 別名
    • CDHS
    • HUP 2
    • HUP2
    • MGC120381
    • MGC120382
    • MGC120383
    • MGC120384
    • MGC134778
    • Paired box 3
    • Paired box gene 3
    • Paired box homeotic gene 3
    • Paired box protein Pax 3
    • Paired box protein Pax-3
    • Paired box protein Pax3
    • Paired domain gene 3
    • Paired domain gene HuP2
    • PAX 3
    • Pax3
    • PAX3/FKHR fusion gene
    • PAX3_HUMAN
    • Sp
    • splotch
    • Waardenburg syndrome 1
    • WS 1
    • WS1
    • WS3
    see all
  • 機能Probable transcription factor associated with development of alveolar rhabdomyosarcoma.
  • 関連疾患Defects in PAX3 are the cause of Waardenburg syndrome type 1 (WS1) [MIM:193500]. WS1 is an autosomal dominant disorder characterized by wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum), pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma and sensorineural deafness. The syndrome shows variable clinical expression and some affected individuals do not manifest hearing impairment.
    Defects in PAX3 are the cause of Waardenburg syndrome type 3 (WS3) [MIM:148820]; also known as Klein-Waardenburg syndrome or Waardenburg syndrome with upper limb anomalies or white forelock with malformations. WS3 is a very rare autosomal dominant disorder, which shares many of the characteristics of WS1. Patients additionally present with musculoskeletal abnormalities.
    Defects in PAX3 are the cause of craniofacial-deafness-hand syndrome (CDHS) [MIM:122880]. CDHS is thought to be an autosomal dominant disease which comprises absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and short nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism and profound sensory-neural deafness.
    Defects in PAX3 are a cause of rhabdomyosarcoma type 2 (RMS2) [MIM:268220]. It is a form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchimal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. Note=A chromosomal aberration involving PAX3 is found in rhabdomyosarcoma. Translocation (2;13)(q35;q14) with FOXO1. The resulting protein is a transcriptional activator.
    Note=A chromosomal aberration involving PAX3 is a cause of rhabdomyosarcoma. Translocation t(2;2)(q35;p23) with NCOA1 generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of PAX3 and the C-terminus part of NCOA1. The fusion protein acts as a transcriptional activator. Rhabdomyosarcoma is the most common soft tissue carcinoma in childhood, representing 5-8% of all malignancies in children.
  • 配列類似性Belongs to the paired homeobox family.
    Contains 1 homeobox DNA-binding domain.
    Contains 1 paired domain.
  • 細胞内局在Nucleus.
  • Information by UniProt

Recombinant Human PAX3 protein 画像

  • SDS-PAGE analysis of ab114320 on a 12.5% gel stained with Coomassie Blue.

Recombinant Human PAX3 protein (ab114320) 使用論文

ab114320 has not yet been referenced specifically in any publications.

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