Progress in Biological Functions of NBAS Gene and Related Diseases / 罕见病研究

ABSTRACT

Neuroblastoma-amplified sequence (NBAS) is a highly conserved gene firstly found in neuroblastoma, targeting on the human chromosome 2 p24.3 and encodes a protein that is a subunit of the Syntaxin 18 complex. The functions of NBAS include the involvement in transport of Golgi-to-Endoplasmic Reticulum retrograde and degradation of nonsense-mediated mRNA. NBAS gene is widely expressed in more than 30 tissues, suggesting that it may play an important role in human body. In 2010 and 2015, NBAS was identified successively as the pathogenic gene of SOPH syndrome and fever-related liver failure respectively. Recent studies shows that NBAS gene mutations can involve immune system and cause immune deficiency. In this paper, we review the biological function of NBAS, NBAS gene mutation-related diseases and their pathogenesis in recent years.