Overview:

c-KIT (Y823D) encodes the ligand-binding chain (alpha) of the gamma interferon receptor which is a heterodimer of IFNGR1 and IFNGR2. c-KIT (Y823D) is a regulator of hematopoietic stem cells during homeostasis and under conditions of infectious stress. A genetic variation in c-KIT (Y823D) is associated with susceptibility to Helicobacter pylori infection. In addition, defects in c-KIT (Y823D) are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection (1). c-KIT (Y823D is also associated with the clinical outcome of HBV infection in Chinese adults (2).

Gene Aliases:

PBT, SCFR, CD119

Genbank Number:

NM_000222

References:

1. Baldridge, M. T. et.al: Quiescent haematopoietic stem cells are activated by IFN-gamma in response to chronic infection. Nature 465: 793-797, 2010.

2. Zhou, J. et.al: A regulatory polymorphism in interferon-gamma receptor 1 promoter is associated with the susceptibility to chronic hepatitis B virus infection. Immunogenetics 61: 423-430, 2009.