RFXANK, Official Symbol RFXANKprovided by HGNC Official Full Name regulatory factor X associated ankyrin containing proteinprovided by HGNC Primary source HGNC:HGNC:9987 See related Ensembl:ENSG00000064490 MIM:603200; AllianceGenome:HGNC:9987 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BLS; RFX-B; ANKRA1; F14150_1 Summary Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in thyroid (RPKM 13.0), bone marrow (RPKM 11.7) and 25 other tissues See more Orthologs mouse all