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CIITA class II major histocompatibility complex transactivator

Also known as: C2TA; NLRA; MHC2TA; CIITAIV

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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Rheumatoid arthritis
MedGen: C0003873OMIM: 180300GeneReviews: Not available
See labs
SCID due to absent class II HLA antigens
MedGen: C0242583OMIM: 209920GeneReviews: Not available
See labs

Genomic context

Location:
16p13.13
Sequence:
Chromosome: 16; NC_000016.10 (10866208..10941562)
Total number of exons:
27

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