RFXANK Antibody, Biotin conjugated

1. mutation results in Bare Lymphocyte Syndrome, Type 2 in a child of Mexican descent PMID: 26634365
2. 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) PMID: 21908431
3. 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. PMID: 20414676
4. Low levels of RFX-B are found in macrophages of colorectal cancer patients, partly explaining immunodeficiency in cancer. PMID: 11836625
5. in vivo effects of mutations on the expression of the RFXANK RNA and protein PMID: 12618906
6. ANKRA, RFXANK, and CIITA are novel targets of class IIa HDACs which may deacetylases play a role in regulating MHCII expression PMID: 15964851
7. analysis of RFXANK domains and function PMID: 16166641
8. RFXAP and RFXB have roles in relieving autoinhibition of RFX5 PMID: 18723135

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HGNC: 9987

OMIM: 209920

KEGG: hsa:8625

STRING: 9606.ENSP00000305071

UniGene: Hs.153629