[5][6][7][8] This gene encodes a protein that interacts with Trio, which is involved with neural tissue development and in controlling actin cytoskeleton organization, cell motility, and cell growth.
Domains contained in this encoded protein are an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region.
Mutations in this gene have been associated with a form of autosomal-recessive nonsyndromic deafness.
Multiple alternatively-spliced transcript variants that would encode different isoforms have been found for this gene, though some transcripts may be subject to nonsense-mediated decay (NMD).
This article on a gene on human chromosome 22 is a stub.