FAM83D
FAM83D: A Gene with Multifaceted Roles in Health and Disease
Description
FAM83D (Family with Sequence Similarity 83, Member D) is a gene located on chromosome 8q24.3. It encodes a protein called the FAM83D family with sequence similarity 83, member D protein, which is highly conserved across species and plays a crucial role in various biological processes.
Associated Diseases
Mutations or dysregulation of the FAM83D gene have been linked to several human diseases, including:
- Neurodevelopmental disorders: FAM83D mutations have been associated with autism spectrum disorder, intellectual disability, and schizophrenia.
- Neurodegenerative disorders: Alterations in FAM83D expression have been implicated in Alzheimer‘s disease and Parkinson‘s disease.
- Cancer: Overexpression or amplification of FAM83D has been observed in certain cancers, such as breast cancer and lung cancer.
Did you Know ?
A study published in the journal "Nature Genetics" found that rare genetic variants in FAM83D were significantly enriched in individuals with severe early-onset intellectual disability. This finding highlights the importance of FAM83D in normal neurodevelopment.
