FAM229B
Description:
FAM229B is a gene that encodes a protein called family with sequence similarity 229 member B. This protein is involved in regulating cell growth and division. It is primarily expressed in the brain, although it may also be found in other tissues.
Associated Diseases:
Mutations in the FAM229B gene have been linked to several neurodevelopmental disorders, including:
- Microcephaly: A condition where the head is abnormally small.
- Intellectual disability: Difficulty with learning and reasoning.
- Autism spectrum disorder (ASD): A group of conditions characterized by social difficulties, repetitive behaviors, and restricted interests.
- Schizophrenia: A serious mental illness that can disrupt thinking, emotions, and behavior.
Did you Know ?
Studies have shown that mutations in the FAM229B gene are responsible for about 1% of all cases of microcephaly.