ZADH2
ZADH2 Gene: A Complex Player in Human Health and Disease
Description
The ZADH2 gene encodes an enzyme called zinc-alpha-2-glycoprotein (ZAG), which plays a crucial role in the metabolism of vitamin A and other essential nutrients. It is located on chromosome 16q22.1 and consists of 11 exons and 10 introns.
Associated Diseases
Mutations in the ZADH2 gene have been associated with a range of human diseases, including:
- Acrodermatitis enteropathica (AE): A rare genetic disorder characterized by severe vitamin A deficiency, skin lesions, and gastrointestinal problems.
- Alopecia areata: An autoimmune condition that leads to hair loss.
- Celiac disease: An autoimmune response to gluten that affects the small intestine.
- Pancreatic cancer: A type of cancer that originates in the pancreas.
Did you Know ?
Approximately 1 in 10,000 people worldwide have AE, which is caused by mutations in either the ZADH2 gene or the SLC46A1 gene.
