FAM57B
FAM57B: A Gene Implicated in Neurodevelopmental Disorders and Cancer
Description
FAM57B (family with sequence similarity 57, member B) is a gene that encodes a protein called family with sequence similarity 57, member B. This protein is expressed in various tissues, including the brain, heart, and skeletal muscle. It is primarily involved in the regulation of cell growth and differentiation, as well as the transport of molecules across cell membranes.
Associated Diseases
Mutations in the FAM57B gene have been linked to a range of diseases, including:
- Neurodevelopmental disorders: Intellectual disability, autism spectrum disorder, and microcephaly (small head size)
- Congenital heart defects: Tetralogy of Fallot, a complex heart defect characterized by a combination of four heart abnormalities
- Cancer: Breast cancer, lung cancer, and colon cancer
Did you Know ?
Approximately 1 in 100 people is estimated to carry a mutation in the FAM57B gene.
