• Thumbnail for RFXANK
    DNA-binding protein RFXANK is a protein that in humans is encoded by the RFXANK gene. Major histocompatibility (MHC) class II molecules are transmembrane...
    9 KB (1,208 words) - 13:35, 14 February 2024
  • Thumbnail for Eosinophilia
    CD3gamma chain deficiency (defective CD3G gene), MCHII deficiency (defective RFXANK gene), Wiskott–Aldrich syndrome (defective WAS gene), IPEX syndrome (defective...
    50 KB (5,494 words) - 21:49, 19 July 2024
  • Thumbnail for CIITA
    been shown to interact with: MAPK1, Nuclear receptor coactivator 1, RFX5, RFXANK, XPO1, and ZXDC. MHC class II GRCh38: Ensembl release 89: ENSG00000179583...
    9 KB (1,097 words) - 05:37, 10 September 2023
  • Thumbnail for Histone deacetylase
    HDAC4 1 Nucleus / cytoplasm heart, skeletal muscle, brain GCMA, GATA1, HP1 RFXANK Defects in chondrocyte differentiation HDAC5 1 Nucleus / cytoplasm heart...
    31 KB (3,181 words) - 07:12, 12 August 2024
  • Thumbnail for RFXAP
    signals have been found for this gene. RFXAP has been shown to interact with RFXANK. GRCh38: Ensembl release 89: ENSG00000133111 – Ensembl, May 2017 GRCm38:...
    7 KB (909 words) - 05:19, 8 November 2023
  • Thumbnail for Bare lymphocyte syndrome
    regulatory factor X5 (RFX5) RFX-associated protein (RFXAP) RFX ankyrin repeats (RFXANK; also known as RFXB) The comparatively rarer BLS I, also called "HLA class...
    7 KB (687 words) - 04:36, 2 August 2024
  • Thumbnail for Ankyrin repeat
    PPP1R12B; PPP1R12C; PPP1R13B; PPP1R13L; PPP1R16A; PPP1R16B; PSMD10; RAI14; RFXANK; RIPK4; RNASEL; SHANK1; SHANK2; SHANK3; SNCAIP; TA-NFKBH; TEX14; TNKS; TNKS2;...
    14 KB (1,393 words) - 19:22, 1 December 2023
  • Q8HWS3 13667 RFX7 HGNC:25777 Q2KHR2 13668 RFX8 HGNC:37253 Q6ZV50 13669 RFXANK HGNC:9987 O14593 13670 RFXAP HGNC:9988 O00287 13671 RGCC HGNC:20369 Q9H4X1...
    282 KB (17 words) - 07:55, 20 June 2024
  • TAP2, TAPBP, or B2M) MHC class II deficiency (with mutations in CIITA, RFXANK, RFX5, or RFXAP) CD25 deficiency CD27 deficiency STAT5b deficiency ITK deficiency...
    19 KB (1,836 words) - 09:52, 5 July 2024
  • Thumbnail for Bare lymphocyte syndrome type II
    function(as prior gene) and is located at 1q21.3(cytogenetic location) RFXANK(also known as ankyrin repeat-containing regulatory factor X-associated protein)...
    9 KB (873 words) - 21:19, 19 June 2024
  • M. G., and K. C. Arden. 2000. Assignment of ankyrin repeat, family A (RFXANK-like) 2 (ANKRA2) to human chromosome 5q12-q13 by radiation hybrid mapping...
    16 KB (1,797 words) - 09:34, 7 April 2024
  • aciduria; 610377; MVK MHC class II deficiency, complementation group B; 209920; RFXANK Micochondrial phosphate carrier deficiency; 610773; SLC25A3 Microcephalic...
    234 KB (18,877 words) - 15:43, 9 May 2024