ARMC12
Armc12: Gene Mutations and Associated Health Conditions
Description
Armc12, also known as armadillo repeat-containing protein 12, is a gene that encodes a protein involved in various cellular functions, including cell adhesion, cell migration, and cell signaling. Mutations in the armc12 gene have been linked to several health conditions.
Associated Diseases
Mutations in the armc12 gene have been associated with the following conditions:
- Focal Segmental Glomerulosclerosis (FSGS): A kidney disease characterized by scarring and inflammation of the glomeruli, which are the filtering units of the kidneys.
- Intellectual Disability: Mild to severe intellectual impairment, difficulty with learning, and language deficits.
- Autism Spectrum Disorder (ASD): A developmental disorder characterized by social difficulties, repetitive behaviors, and restricted interests.
- Schizophrenia: A mental illness characterized by hallucinations, delusions, and disorganized thinking.
- Epilepsy: A neurological disorder characterized by recurrent seizures.
Did you Know ?
- Approximately 1 in 10 people with FSGS have a mutation in the armc12 gene.
