概述

  • 产品名称AHI1肽(1-12)

描述

  • 性质Synthetic
  • 氨基酸序列
    • 种属Human
    • 序列PTAESEAKVKT-C
    • 氨基酸1 to 12

技术指标

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.

  • 应用

    Blocking

  • 形式Liquid
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

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

常规信息

  • 别名
    • 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
  • 组织特异性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).
  • 疾病相关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.
  • 序列相似性Contains 1 SH3 domain.
    Contains 7 WD repeats.
  • 细胞定位Cytoplasm > cytoskeleton > cilium basal body. Cell junction > adherens junction.
  • Information by UniProt

AHI1 peptide (1-12) (ab45638)参考文献

ab45638 has not yet been referenced specifically in any publications.

Product Wall

There are currently no Abreviews or Questions for ab45638.
Please use the links above to contact us or submit feedback about this product.

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"