Alt. symbols: MHC2TA | C2TA | NLRA

Approved name: class II major histocompatibility complex transactivator
Alt. names: MHC class II transactivator, class II, major histocompatibility complex, transactivator | NLR family, acid domain containing, nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing

Location: 16p13.13: 10866222 - 10943021 (+)
Gene type: protein_coding, 20 transcripts.

Scores: LoFtool: 0.480000 | pLI: 0.00005543 | LOEUF: 0.583

HGNC: 7067

NCBI: 4261, RefSeq: NG_009628.1

Ensembl: ENSG00000179583.21

LRG_49 | Status: public

OMIM: 600005

Expression | ProteinAtlas

Bare lymphocyte syndrome, type II, complementation group A [MIM:209920] | {Rheumatoid arthritis, susceptibility to} [MIM:180300]. Mutations in the class II trans-activator (CIITA) have been shown to cause a form of immunodeficiency called Bare lymphocyte syndrome, type II, complementation group A (OMIM: 209920). Bare lymphocyte syndrome, type II, complementation group A. The bare lymphocyte syndrome type II is a member of the relatively heterogeneous class of SCID, or severe combined immunodefic iency. It is associated with, and probably results from, the lack of expression of HLA antigens on some cells of hematopoietic origin (Touraine et al., 1978). First symptoms presented after the age of 3 or 4 months. All children had severe and persistent diarrhea, mucocutaneous candidiasis, interstitial pneumonia and various bacterial infections but no proved systemic viral infections. The findings of special studies supported the important role of class I HLA antigens in antigen recognition by T lymphocytes. [Load More]