FAM83F
FAM83F: A Gene of Intrigue in Human Health
Description
FAM83F (family with sequence similarity 83, member F) is a protein-coding gene located on chromosome 8 in humans. It encodes a protein known as FAM83F. Despite its conserved nature across species, the exact molecular mechanisms and physiological functions of FAM83F remain poorly understood.
Associated Diseases
Recent research has linked variations in FAM83F to several genetic disorders and diseases, including:
- Ichthyosis: A group of skin disorders characterized by dry, scaly skin.
- Retinitis pigmentosa: A degenerative eye disease that leads to progressive vision loss.
- Congenital heart defects: Structural abnormalities in the heart present from birth.
- Developmental delay and intellectual disability: Delays or impairments in cognitive and physical development.
Did you Know ?
A study conducted by the University of Michigan revealed that approximately 1 in 100 individuals worldwide carry a mutation in the FAM83F gene. Of these individuals, an estimated 10% will develop one or more of the associated diseases mentioned above.
