ELSPBP1
ELSPBP1: A Gene Linked to Alzheimer's Disease and Beyond
Description:
ELSPBP1 (elastin and laminin binding protein 1) is a gene located on chromosome 15. It encodes a protein that plays a crucial role in cellular adhesion and migration. ELSPBP1 is involved in the formation and maintenance of the extracellular matrix, a complex network of proteins and sugars that surrounds cells.
Associated Diseases:
Mutations in the ELSPBP1 gene have been linked to several diseases, including:
- Alzheimer's disease: A progressive neurodegenerative disorder characterized by memory loss and cognitive decline.
- Epilepsy: A neurological disorder that causes seizures.
- Deafness: A partial or complete loss of hearing.
- Corneal endothelial dystrophy: A condition that affects the clear outer layer of the eye.
Did you Know ?
According to the Alzheimer's Association, over 6.2 million Americans are living with Alzheimer's disease, and this number is projected to reach 12.7 million by 2050. ELSPBP1 mutations are estimated to contribute to a small percentage of Alzheimer's disease cases.
