| Modification Notes |
AHI1 (Abelson helper integration site 1), also known as ORF1, AHI-1, JBTS3 or Jouberin, is a 1196 amino acid signaling protein that is expressed in the brain, specifically in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles . AHI1 contains seven WD repeats, an SH3 domain, and several SH3-binding sites and is critical for both cerebellar and cortical development. Mutations of AHI1 are associated with Joubert syndrome (JS), an autosomal recessive disorder characterized by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements and a brain malformation. Considered a novel oncogene, AHI1 is highly deregulated in Chronic myeloid leukemia (CML). Three isoforms exist due to alternative splicing events. |