Key features and details
- Rabbit polyclonal to AHI1
- Suitable for: IHC-P, IHC-Fr, WB
- Reacts with: Human
- Isotype: IgG
Product nameAnti-AHI1 antibody
DescriptionRabbit polyclonal to AHI1
Tested applicationsSuitable for: IHC-P, IHC-Fr, WBmore details
Species reactivityReacts with: Human
Predicted to work with: Mouse, Rat
Synthetic peptide derived from the C terminal domain of human AHI1 protein.
Storage instructionsShipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Storage bufferConstituent: Whole serum
Concentration information loading...
Our Abpromise guarantee covers the use of ab76843 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|IHC-P||1/50 - 1/500.|
|IHC-Fr||1/50 - 1/500.|
|WB||1/200 - 1/2000. Predicted molecular weight: 137 kDa.|
Tissue specificityHighly 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 diseaseDefects 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 similaritiesContains 1 SH3 domain.
Contains 7 WD repeats.
Cellular localizationCytoplasm > cytoskeleton > cilium basal body. Cell junction > adherens junction.
- Information by UniProt
- Abelson helper integration site 1 antibody
- Abelson helper integration site 1 protein homolog antibody
- Abelson helper integration site antibody
ab76843 has not yet been referenced specifically in any publications.