MINOS1-NBL1
Minosin 1 and Nephronectin Beyond 1: Essential Proteins in Renal Health
Description
Minosin 1 (MYO1NS1) and Nephronectin (NPHS1) are crucial proteins involved in the normal functioning of the kidneys. MYO1NS1 is a motor protein responsible for transporting vesicles and organelles within renal cells, while NPHS1 is a protein that plays a vital role in maintaining the integrity of the glomerular filtration barrier, which filters waste products and excess fluids from the blood.
Associated Diseases
Mutations or alterations in MYO1NS1 and NPHS1 genes have been linked to several renal disorders, including:
- Focal Segmental Glomerulosclerosis (FSGS): A chronic kidney disease characterized by scarring and inflammation of the glomeruli, leading to proteinuria (loss of protein in the urine) and progressive kidney dysfunction.
- Nephrotic Syndrome: A condition characterized by massive proteinuria, swelling, and low blood protein levels.
- Congenital Nephrotic Syndrome: A rare genetic disorder that manifests as nephrotic syndrome in infancy or early childhood.
Did you Know ?
FSGS is the most common cause of nephrotic syndrome in children and affects approximately 1 in 50,000 people worldwide. Mutations in MYO1NS1 have been identified in up to 25% of FSGS cases.
