FAM188B
FAM188B: A Gene Linked to Neurological Disorders and Cancer
Description
FAM188B (Family with Sequence Similarity 188 Member B) is a gene that encodes a protein involved in regulating cell growth and division. It is primarily expressed in the brain, testes, and ovaries. Mutations in the FAM188B gene have been linked to several neurological disorders and cancer types.
Associated Diseases
- Intellectual disability: Mutations in FAM188B can lead to intellectual disability, characterized by significant cognitive impairment that affects daily functioning.
- Autism spectrum disorder (ASD): FAM188B mutations have been associated with increased risk for ASD, a developmental disorder characterized by social and communication challenges.
- Microcephaly: FAM188B mutations can cause microcephaly, a condition where the brain is abnormally small.
- Schizophrenia: Some studies have suggested a possible association between FAM188B mutations and increased risk for schizophrenia, a severe mental disorder.
- Cancer: FAM188B mutations have been implicated in the development of certain types of cancer, including colorectal cancer, breast cancer, and lung cancer.
Did you Know ?
- A study of individuals with intellectual disability found that FAM188B mutations were present in approximately 1.5% of cases, highlighting the significant role this gene plays in cognitive function.
