KIAA1522
kiaa1522: An Essential Gene with Diverse Roles in Human Health
Description
Kiaa1522 is a gene located on the long arm of chromosome 17 in humans. It encodes a protein of 148 amino acids known as Laminin Subunit Alpha-3 (LAMA3). LAMA3 is a component of the extracellular matrix, primarily located in basement membranes. Basement membranes are specialized structures that underlie epithelial cells and provide structural support and regulate cell-cell interactions.
Associated Diseases
Mutations in the kiaa1522 gene have been linked to several inherited diseases, including:
- Hereditary Nephritis: A rare kidney disease characterized by inflammation and progressive loss of kidney function. Mutations in kiaa1522 can impair the integrity of the glomerular basement membrane, leading to proteinuria and kidney failure.
- Pachydermoperiostosis: An extremely rare bone disorder characterized by excessive bone growth and thickening of the skin. Mutations in kiaa1522 disrupt the production of normal LAMA3, leading to defects in basement membranes and abnormal bone formation.
- Juvenile Hypochondroplasia: A type of short stature with features similar to hypochondroplasia, but milder. Mutations in kiaa1522 disrupt the normal development of cartilage and lead to problems with bone growth.
- Chondrodysplasia with Skin Involvement: A rare disorder characterized by short stature, skeletal abnormalities, and skin problems such as thickening and coarsening. Mutations in kiaa1522 disrupt the function of basement membranes in cartilage and skin.
Did you Know ?
According to the National Institutes of Health (NIH), mutations in the kiaa1522 gene are responsible for approximately 5% of cases of hereditary nephritis. This highlights the significant role of this gene in kidney health.
