MAGI2

MAGI2: A Genetic Key to Multiple Diseases

Description

MAGI2 (membrane-associated guanylate kinase inverted-2) is a gene that encodes a protein involved in cell-cell communication and adhesion. Mutations in the MAGI2 gene can disrupt these processes, leading to a range of developmental and neurological disorders.

Associated Diseases

MAGI2 mutations have been linked to several diseases, including:

• Schizophrenia: MAGI2 plays a role in neuronal migration and synaptic development, both of which are impaired in schizophrenia.
• Autism spectrum disorder (ASD): MAGI2 mutations have been identified in individuals with ASD, suggesting a role in social and communication difficulties.
• Intellectual disability: Severe MAGI2 mutations can lead to profound intellectual disability with limited language and communication skills.
• Microcephaly: Mutations in MAGI2 can result in microcephaly, a condition characterized by an abnormally small head size.
• Congenital heart defects: MAGI2 is involved in cardiovascular development, and mutations in the gene have been associated with heart malformations.

Did you Know ?

Approximately 1 in 10,000 individuals has a mutation in the MAGI2 gene.