Protein Domain : HS1-associating protein X-1 IPR017248

Type	Family
Description	HS1-associating protein X-1 (HAX-1) promotes cell survival [ ] and is involved in the clathrin-mediated endocytosis pathway []. It has been implicated in severe congenital neutropenia (SCN), neurological disorders and cancer []. The voltage-dependent Kv3.3 potassium channel has been shown to bind to HAX-1 to induce Arp2/3 (actin-related protein 2/3 complex) dependent actin filament nucleation at the plasma membrane []. Mutations in HAX-1 gene cause neutropenia, severe congenital 3, autosomal recessive (SCN3), which is a disorder of hematopoiesis characterised by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections [ ].
Short Name	HAX-1