| Primary Identifier | IPR035832 | Type | Domain |
| Short Name | AHI1_SH3 |
| description | Jouberin, also called AHI-1, is expressed in high levels in the brain, gonad tissues, and skeletal muscle. It is an adaptor protein that interacts with the small GTPase Rab8a and regulates it distribution and function, affecting cilium formation and vesicle transport []. Mutations in the AHI-1 gene can cause Joubert syndrome, a disorder characterized by brainstem malformations, cerebellar aplasia/hypoplasia, and retinal dystrophy []. AHI-1 variation is also associated with susceptibility to schizophrenia []and type 2 diabetes mellitus progression []. AHI-1 contains WD40 and SH3 domains. This entry includes the SH3 domain of jouberin. |
