FAM189B
Description
FAM189B is a gene located on chromosome 19. It encodes a protein that is involved in the regulation of cell growth and differentiation. Mutations in FAM189B have been linked to several genetic disorders, including:
- Microcephaly (MCPH): MCPH is a condition in which the head is abnormally small. It can be caused by mutations in several genes, including FAM189B.
- Intellectual disability (ID): ID is a condition that is characterized by significant difficulties in intellectual functioning and adaptive behavior. It can be caused by mutations in a number of genes, including FAM189B.
- Autism spectrum disorder (ASD): ASD is a complex developmental disorder that affects social interaction, communication, and behavior. It is thought to be caused by a combination of genetic and environmental factors. Mutations in FAM189B have been associated with an increased risk of ASD.
Associated Diseases
In addition to the genetic disorders listed above, mutations in FAM189B have also been linked to several other diseases, including:
- Cancer: Mutations in FAM189B have been found in several types of cancer, including breast cancer, lung cancer, and colon cancer.
- Neurological disorders: Mutations in FAM189B have been linked to several neurological disorders, including Alzheimer's disease, Parkinson's disease, and Huntington's disease.
- Cardiovascular disease: Mutations in FAM189B have been associated with an increased risk of cardiovascular disease, including heart attack and stroke.
Did you Know ?
Mutations in FAM189B are thought to be responsible for approximately 1% of cases of MCPH.
