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RFXANK encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton.
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genetic, clinical, and immunologic features of 35 patients from 30 unrelated kindreds from North Africa sharing the same RFXANK founder mutation, a 26-bp deletion called I5E6-25_I5E6 + 1)
Findings confirm the association between the high frequency of the combined immunodeficiency and the defect in MHC class II expression and provides strong evidence for a founder effect of the 752delG26 mutation in the North African population.
Low levels of RFX-B are found in macrophages of colorectal cancer patients, partly explaining immunodeficiency in cancer.
in vivo effects of mutations on the expression of the RFXANK RNA and protein
ANKRA, RFXANK, and CIITA are novel targets of class IIa HDACs which may deacetylases play a role in regulating MHCII expression
analysis of RFXANK domains and function
RFXAP (show RFXAP Antibodies) and RFXB have roles in relieving autoinhibition of RFX5 (show RFX5 Antibodies)
Class II histone deacetylases (HDACs)4 and HDAC5 interact with the ankyrin repeats of ankyrin repeat, family A and RFXANK and, through association with RFXANK, repress MHC II promoter activation
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. Two transcript variants encoding different isoforms have been described for this gene, with only one isoform showing activation activity.
DNA-binding protein RFXANK
, ankyrin repeat family A protein 1
, ankyrin repeat-containing regulatory factor X-associated protein
, regulatory factor X subunit B
, ankyrin repeat-containing adapter protein Tvl-1