基因名:
CIITA
产品别名:
C2TA; CIITAIV; MHC2TA; NLRA; CIITA; class II major histocompatibility complex transactivator; class II major histocompatibility complex transactivator; MHC class II transactivator; MHC class II transactivator type I; MHC class II transactivator type III; NLR family, acid domain containing; nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing; 组织相容性复合体蛋白2反式激活因子;
背景信息:
This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the "master control factor" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. [provided by RefSeq, Jul 2008]