ACTL6B
ACTL6B: A Gene Linked to Multiple Diseases
Description
ACTL6B is a gene located on chromosome 19. It encodes a protein called actin-like protein 6B, which is involved in various cellular processes, including cell migration, cell division, and muscle contraction. Mutations in the ACTL6B gene have been linked to several diseases, including:
Associated Diseases
- Focal segmental glomerulosclerosis (FSGS): A kidney disease characterized by scarring of the kidney filters.
- Nephrotic syndrome: A condition where the kidneys leak excessive amounts of protein into the urine.
- Hypertrophic cardiomyopathy (HCM): A heart condition that causes the heart muscle to thicken abnormally.
- Dilated cardiomyopathy (DCM): A heart condition that causes the heart muscle to enlarge and weaken.
- Bardet-Biedl syndrome: A rare genetic disorder characterized by obesity, intellectual disability, retinitis pigmentosa, and kidney malformations.
Did you Know ?
Mutations in the ACTL6B gene are estimated to account for approximately 2% of cases of FSGS, one of the most common causes of kidney failure in children.
