RFXAP Chromosome 13
Regulatory factor X associated protein
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What This Gene Does
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 ankyrin-containing 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. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (3)
MHC class II deficiency
MHC class II deficiency 4
MHC class II deficiency 1
Key Variants
RS139675642
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS373233313
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS763162669
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS2138212278
Likely pathogenic
MHC class II deficiency, MHC class II deficiency
Health Risk
RS749368415
Likely pathogenic
MHC class II deficiency, MHC class II deficiency
Health Risk
RS754240018
Likely pathogenic
MHC class II deficiency, MHC class II deficiency 4, MHC class II deficiency
Health Risk
RS1224857205
Pathogenic
MHC class II deficiency, MHC class II deficiency
Health Risk
RS1249595284
Pathogenic
MHC class II deficiency, MHC class II deficiency
Health Risk
RS1250669587
Pathogenic
MHC class II deficiency 4, MHC class II deficiency 4
Health Risk
RS1275835656
Pathogenic
Health Risk
RS137853098
Pathogenic
MHC class II deficiency 4, MHC class II deficiency 4
Health Risk
RS1388967331
Pathogenic
MHC class II deficiency, MHC class II deficiency
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139675642 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS373233313 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS763162669 | Health Risk | Conflicting classifications of pathogenicity | MHC class II deficiency, MHC class II deficiency |
| RS2138212278 | Health Risk | Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS749368415 | Health Risk | Likely pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS754240018 | Health Risk | Likely pathogenic | MHC class II deficiency, MHC class II deficiency 4, MHC class II deficiency |
| RS1224857205 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS1249595284 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS1250669587 | Health Risk | Pathogenic | MHC class II deficiency 4, MHC class II deficiency 4 |
| RS1275835656 | Health Risk | Pathogenic | — |
| RS137853098 | Health Risk | Pathogenic | MHC class II deficiency 4, MHC class II deficiency 4 |
| RS1388967331 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS1415196376 | Health Risk | Pathogenic | MHC class II deficiency 4, MHC class II deficiency 4 |
| RS2057955936 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2138213000 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2500443426 | Health Risk | Pathogenic | MHC class II deficiency 4, MHC class II deficiency 4 |
| RS2500443582 | Health Risk | Pathogenic | MHC class II deficiency 4, MHC class II deficiency 4 |
| RS2500443932 | Health Risk | Pathogenic | MHC class II deficiency 4, MHC class II deficiency 4 |
| RS775250354 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency 4, MHC class II deficiency 1 |
| RS1313207845 | Health Risk | Pathogenic/Likely pathogenic | MHC class II deficiency, MHC class II deficiency 4, MHC class II deficiency |