Anti-HAX1 antibody

Supplementary info

Activity summary

HAX1 also known as HS-1 associated protein X-1 is a multifunctional protein with a mass of approximately 35 kDa. It plays a significant role in cellular activities by regulating various signaling pathways and maintaining cellular homeostasis. The expression of HAX1 is found in several tissues including the brain heart and skeletal muscle indicating its diverse functional importance across different cell types.

Biological function summary

HAX1 contributes to the stabilization of mitochondria by preventing apoptosis. It interacts with other proteins to form complexes that support cell survival. HAX1's involvement in mitochondrial functions highlights its role in regulating energy production and cellular stress responses. Its capacity to inhibit programmed cell death makes it essential for maintaining cell integrity under stress conditions.

Pathways

HAX1 is integral to the mitochondrial apoptosis pathway and also plays a part in the cytoskeletal signaling pathway. In the apoptosis pathway HAX1 interacts with proteins like BCL-2 to inhibit cell death ensuring cell survival. Additionally in the cytoskeletal signaling pathway HAX1 associates with cytoskeletal proteins aiding in the reorganization of cell structure and enhancing cellular processes like migration.

Associated diseases and disorders

HAX1 mutations or dysregulation link to severe congenital neutropenia and some neurological disorders. Mutations in HAX1 disrupt the apoptosis inhibition pathway causing a loss in neutrophil count which results in severe congenital neutropenia. This condition is often associated with proteins like ELANE. In some neurological disorders altered HAX1 levels can disturb cellular signaling and survival leading to cellular dysfunction.