C-jun-amino-terminal kinase-interacting protein 2 is a protein or the name of the gene that encodes it. The gene is also known as Islet-Brain-2 (IB2).
C-jun-amino-terminal kinase-interacting protein 2 is a protein or the name of the gene that encodes it. The gene is also known as Islet-Brain-2 (IB2).
This protein is highly expressed in the brain and is almost always deleted in Phelan-McDermid syndrome (PMS). MAPK8IP2 appears to regulate the ratio of AMPA receptors to NMDA receptors at glutamate synapses, and thus may be an important contributor to the intellectual dysfunction and related neurological manifestations characteristic of PMS.
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).