FAM26D
Title: FAM26D: A Gene with Diverse Roles and Implications
Description
FAM26D, also known as DUF1220, is a gene that encodes a protein of the same name. This protein belongs to the FAM26 family and is characterized by the presence of a conserved DUF1220 domain. FAM26D is involved in various cellular processes, ranging from cytoskeletal organization to cell signaling.
Associated Diseases
Mutations in the FAM26D gene have been linked to several diseases, including:
- Microcephaly: A condition characterized by an unusually small head circumference.
- Intellectual disability: A range of developmental impairments in cognitive abilities.
- Autism spectrum disorder (ASD): A neurodevelopmental condition characterized by difficulties in social interaction and communication.
- Schizophrenia: A severe mental illness with symptoms including hallucinations, delusions, and disorganized thinking.
Did you Know ?
Studies have shown that mutations in the FAM26D gene are present in approximately 1% of individuals with microcephaly. This highlights the significant role of FAM26D in brain development.
