ISCA2
Description
The ISCA2 gene provides instructions for making a protein essential for iron-sulfur cluster assembly. These clusters are vital cofactors for numerous enzymes involved in critical cellular processes like energy production, DNA synthesis, and oxygen transport. Mutations in ISCA2 can disrupt this assembly process, leading to a range of health problems.
Associated Diseases
Did you know?
Mutations in ISCA2 can cause a rare genetic disorder known as ‘ISCA2 deficiency,‘ which primarily affects the nervous system and can result in developmental delays and movement disorders.
