製品の概要

  • 製品名
    AHI1 peptide (1-12)

製品の詳細

  • 由来
    Synthetic
  • アミノ酸配列
    • 生物種
      Human
    • 配列
      PTAESEAKVKT-C
    • 領域
      1 to 12

特性

Our Abpromise guarantee covers the use of ab45638 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

    Blocking

  • 製品の状態
    Liquid
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.

関連情報

  • 別名
    • Abelson helper integration site
    • Abelson helper integration site 1
    • Abelson helper integration site 1 protein homolog
    • AHI 1
    • AHI-1
    • Ahi1
    • AHI1_HUMAN
    • Contatins SH3 and WD40 domains
    • dJ71N10.1
    • DKFZp686J1653
    • FLJ14023
    • FLJ20069
    • JBTS3
    • Jouberin
    • ORF1
    • OTTHUMP00000017263
    • OTTHUMP00000017265
    • OTTHUMP00000234456
    • OTTHUMP00000234654
    • OTTHUMP00000234656
    see all
  • 組織特異性
    Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Expressed in kidney (renal collecting duct cells) (at protein level).
  • 関連疾患
    Defects in AHI1 are the cause of Joubert syndrome type 3 (JBTS3) [MIM:608629]. JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. JBTS3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction.
  • 配列類似性
    Contains 1 SH3 domain.
    Contains 7 WD repeats.
  • 細胞内局在
    Cytoplasm > cytoskeleton > cilium basal body. Cell junction > adherens junction.
  • Information by UniProt

参考文献

ab45638 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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