AHI1 Products

Description

Jouberin (AHI1), encoding the Jouberin protein, is an alternatively spliced signaling molecule that contains seven Trp-Asp (WD) repeats, an SH3 domain, and numerous SH3-binding sites. The gene is expressed strongly in embryonic hindbrain and forebrain, and AHI1 may be required for both cerebellar and cortical development in humans. Defects in AHI1 are the cause of Joubert syndrome 3, an autosomal recessive brain congenital malformation. The exact function of the AHI1 gene is not yet known.

Bioinformatics

Entrez	308923 Rat 52906 Mouse 54806 Human
Uniprot	AAH94800.1 Human NP_001128302.1 Human NP_060121 Human NP_060121.3 Human Q8N157 Human
Product By Gene ID	54806
Alternate Names	Abelson helper integration site 1 protein homolog Abelson helper integration site 1 Abelson helper integration site AHI-1 contatins SH3 and WD40 domains dJ71N10.1 DKFZp686J1653 FLJ14023 FLJ20069 JBTS3 jouberin ORF1