Immunoprecipitation of AHI1 transfected lysate using anti-AHI1 MaxPab rabbit polyclonal antibody and Protein A Magnetic Bead (U0007), and immunoblotted with AHI1 purified MaxPab mouse polyclonal antibody (B01P) (H00054806-B01P).
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. [provided by RefSeq
OTTHUMP00000017263,OTTHUMP00000017264,OTTHUMP00000017265,contatins SH3 and WD40 domains,jouberin