AZA1

AZA1 is a gene that encodes a protein involved in iron-sulfur cluster biosynthesis. Iron-sulfur clusters are essential cofactors for a wide range of proteins involved in critical cellular processes, including DNA replication, repair, and gene expression. The AZA1 protein is a component of the scaffold complex, which is responsible for the assembly of these iron-sulfur clusters. Specifically, it works in conjunction with other proteins to bind iron and sulfur precursors and facilitate their incorporation into the growing cluster.

Mutations in the AZA1 gene have been linked to certain human diseases. For instance, it is implicated in some forms of sideroblastic anemia, a group of blood disorders characterized by the inability of the bone marrow to produce sufficient healthy red blood cells. In these conditions, iron accumulates in the mitochondria of developing red blood cells, forming ring sideroblasts, which are a hallmark of the disease. The dysfunction of AZA1 disrupts the proper production of iron-sulfur proteins, leading to these hematological abnormalities. Research into AZA1 and its role in iron-sulfur cluster biogenesis is ongoing, aiming to understand its precise mechanisms and potential therapeutic targets for related disorders.