Overview

  • Product name
    AHI1 peptide (1-12)

Description

  • Nature
    Synthetic
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      PTAESEAKVKT-C
    • Amino acids
      1 to 12

Specifications

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.

  • Applications

    Blocking

  • Form
    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

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

General Info

  • Alternative names
    • 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
  • Tissue specificity
    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).
  • Involvement in disease
    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.
  • Sequence similarities
    Contains 1 SH3 domain.
    Contains 7 WD repeats.
  • Cellular localization
    Cytoplasm > cytoskeleton > cilium basal body. Cell junction > adherens junction.
  • Information by UniProt

References

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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