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Entrez GeneID

Protein Accession#

Gene Name

CIITA

Gene Alias

C2TA, CIITAIV, MHC2TA, NLRA

Gene Description

class II, major histocompatibility complex, transactivator

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

MHC class II transactivator type III|NLR family, acid domain containing|class II transactivator|nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing