Journal
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
Volume 1790, Issue 10, Pages 1139-1148Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.bbagen.2009.06.004
Keywords
Apoptosis; Cancer; Cell migration; Neutropenia; Splice variant
Categories
Funding
- Swedish Children's Cancer Foundation
- Swedish Cancer Foundation
- Swedish Research Council, Stockholm County Council
- Polish Committee for Scientific Research [N30100432/0437]
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HS-1-associated protein X-1 (HAX-1) was identified more than 10 years ago as a novel protein with ubiquitous tissue expression and a predominantly mitochondrial localization at the subcellular level. Recent studies have shown that homozygous mutations in the HAX1 gene are associated with autosomal recessive forms of severe congenital neutropenia (also known as Kostmann disease), and results from studies in mice and men are beginning to unravel a prominent role for HAX-1 in apoptosis signaling not only in the hematopoietic compartment, but also in the central nervous system. Moreover, several different cellular and viral binding partners of HAX-1 have been identified thus pointing toward a complex and multifunctional role of this protein. HAX-1 has also been shown to bind to the 3' untranslated regions of certain mRNAs and could therefore contribute to the regulation of transport and/or stability of such transcripts. The present review discusses the emerging and divergent roles of HAX-1, including its involvement in cell migration, apoptosis signaling, and mRNA surveillance. The importance of HAX-1 in human disease is also highlighted and outstanding questions that remain to be addressed are identified. (C) 2009 Elsevier B.V. All rights reserved.
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