|Tested species reactivity||Human|
|Published species reactivity||Human|
|Host / Isotype||Rabbit / IgG|
|Immunogen||Recombinant fragment contain a sequence corresponding to a region within amino acids 382 and 636 of AHI1|
|Purification||Antigen affinity chromatography|
|Storage buffer||0.1M tris glycine, pH 7, with 20% glycerol|
|Storage Conditions||-20° C, Avoid Freeze/Thaw Cycles|
|Tested Applications||Dilution *|
|Immunohistochemistry (Paraffin) (IHC (P))||1:100-1:1000|
|Western Blot (WB)||1:500-1:3000|
* Suggested working dilutions are given as a guide only. It is recommended that the user titrate the product for use in their own experiment using appropriate negative and positive controls.
|Western Blot (WB)||See 1 publications below|
PA5-30901 targets AHI1 in immunofluorescence, immunocytochemistry, immunohistochemistry (paraffin), and Western blot applications and shows reactivity with Human samples.
The PA5-30901 immunogen is a recombinant fragment corresponding to a region within amino acids 382 and 636 of AHI1.
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
PA5-30901 was used in western blot to discuss the use of genomes from individuals with a consanguineous background to identify genes that cause diseases such as Joubert syndrome.
|Elsayed SM,Phillips JB,Heller R,Thoenes M,Elsobky E,Nürnberg G,Nürnberg P,Seland S,Ebermann I,Altmüller J,Thiele H,Toliat M,Körber F,Hu XJ,Wu YD,Zaki MS,Abdel-Salam G,Gleeson J,Boltshauser E,Westerfield M,Bolz HJ||Human molecular genetics (24:2594)||2015|