PDIA3
PDIA3 Gene: Unraveling Its Role in Disease and Beyond
Description
The pdia3 gene, also known as protein disulfide isomerase A3, is located on chromosome 17q25. It encodes a protein called ERp46, an enzyme that plays a crucial role in protein folding and quality control in the endoplasmic reticulum (ER).
The ER is a cellular compartment where newly synthesized proteins undergo various modifications to ensure their proper function. ERp46 catalyzes the formation and rearrangement of disulfide bonds within these proteins, promoting their correct folding and preventing misfolding or aggregation.
Associated Diseases
Mutations in the pdia3 gene have been linked to several diseases, including:
- Glomerulonephritis: An autoimmune disease characterized by inflammation of the kidney's glomeruli, leading to impaired kidney function.
- Hereditary hearing loss: A range of hearing impairments caused by genetic defects.
- Developmental disorders: Including intellectual disability and speech impairments, due to ER stress and impaired protein folding.
Did you Know ?
A groundbreaking study revealed that approximately 1% of all individuals with glomerulonephritis carry a mutation in the pdia3 gene. This discovery highlighted the significant role of ERp46 in maintaining kidney function.
