Quick Reference

A bcl2 family-related protein (HS1-associated protein X1, 279 aa) that interacts with the haematopoietic and lymphoid-restricted intracellular protein (HS1) and with cortactin. HAX1 is critical to maintaining the inner mitochondrial membrane potential and protecting against apoptosis in myeloid cells; mutation leads to recessive severe congenital neutropenia (Kostmann's disease).

Subjects: Medicine and Health.

Reference entries