FAM3B
FAM3B: A Gene Linked to Multiple Human Diseases
Description
FAM3B (Family with Sequence Similarity 3B) is a gene located on chromosome 1q42.12 in humans. It encodes a protein called FAM3B, which is involved in various cellular processes, including cell growth, differentiation, and metabolism.
Associated Diseases
Mutations or genetic variations in FAM3B have been implicated in the development of several human diseases, including:
- Intellectual disability: Individuals with mutations in FAM3B may exhibit intellectual disability, ranging from mild to severe.
- Autism spectrum disorder (ASD): Studies have found an association between FAM3B mutations and increased risk of ASD.
- Schizophrenia: Some research suggests that FAM3B may play a role in the pathogenesis of schizophrenia.
- Epilepsy: Seizures have been reported in individuals with FAM3B mutations.
- Congenital heart defects: Rare cases of congenital heart defects have been linked to FAM3B mutations.
Did you Know ?
According to a study published in the journal "Molecular Psychiatry," mutations in FAM3B are estimated to occur in approximately 1% of individuals with intellectual disability.
