基因名:
HAX1
产品别名:
HCLSBP1; HS1BP1; SCN3; HAX1; HCLS1 associated protein X-1; HCLS1 associated protein X-1; HCLS1-associated protein X-1; HAX-1; HCLS1 (and PKD2) associated protein; HS1 binding protein; HS1-associating protein X-1; HS1-binding protein 1; HSP1BP-1; 造血干细胞特异性相关结合蛋白1;
背景信息:
RelevanceHAX1 associates with HS1, binding to its N-terminal region. It is also known to associate with PKD2 (involved in polycystic kidney disease) and with cortactin/EMS1. HAX1 is also reported to bind to hairpin structures in vimentin and DNA polymerase beta mRNAs, so may play a role in mRNA stability and transport. It may also function in promoting cell survival. Defects in HAX1 are the cause of autosomal recessive severe congenital neutropenia 3 (SCN3) also called Kostmann disease.