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RFXANK

RFXANK

Protein-coding gene in the species Homo sapiens

DNA-binding protein RFXANK is a protein that in humans is encoded by the RFXANK gene. Major histocompatibility (MHC) class II molecules are transmembrane

RFXANK

CIITA

Protein-coding gene in humans

been shown to interact with: MAPK1, Nuclear receptor coactivator 1, RFX5, RFXANK, XPO1, and ZXDC. MHC class II GRCh38: Ensembl release 89: ENSG00000179583

CIITA

Eosinophilia

Excess number of eosinophil cells in the blood

CD3gamma chain deficiency (defective CD3G gene), MCHII deficiency (defective RFXANK gene), Wiskott–Aldrich syndrome (defective WAS gene), IPEX syndrome (defective

Eosinophilia

Ankyrin repeat

Protein domain

PPP1R12B; PPP1R12C; PPP1R13B; PPP1R13L; PPP1R16A; PPP1R16B; PSMD10; RAI14; RFXANK; RIPK4; RNASEL; SHANK1; SHANK2; SHANK3; SNCAIP; TA-NFKBH; TEX14; TNKS; TNKS2;

Ankyrin repeat

Ankyrin_repeat

RFXAP

Protein-coding gene in the species Homo sapiens

signals have been found for this gene. RFXAP has been shown to interact with RFXANK. GRCh38: Ensembl release 89: ENSG00000133111 – Ensembl, May 2017 GRCm38:

RFXAP

Bare lymphocyte syndrome type II

Medical condition

function(as prior gene) and is located at 1q21.3(cytogenetic location) RFXANK(also known as ankyrin repeat-containing regulatory factor X-associated protein)

Bare lymphocyte syndrome type II

Bare_lymphocyte_syndrome_type_II

Histone deacetylase

Class of enzymes important in regulating DNA transcription

HDAC4 1 Nucleus / cytoplasm heart, skeletal muscle, brain GCMA, GATA1, HP1 RFXANK Defects in chondrocyte differentiation HDAC5 1 Nucleus / cytoplasm heart

Histone deacetylase

Histone_deacetylase

List of primary immunodeficiencies

TAP2, TAPBP, or B2M) MHC class II deficiency (with mutations in CIITA, RFXANK, RFX5, or RFXAP) CD25 deficiency CD27 deficiency STAT5b deficiency ITK deficiency

List of primary immunodeficiencies

List_of_primary_immunodeficiencies

Bare lymphocyte syndrome

Medical condition

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

Bare lymphocyte syndrome

Bare_lymphocyte_syndrome

List of human protein-coding genes 7

Q8HWS3 13672 RFX7 HGNC:25777; Q2KHR2 13673 RFX8 HGNC:37253; Q6ZV50 13674 RFXANK HGNC:9987; O14593 13675 RFXAP HGNC:9988; O00287 13676 RGCC HGNC:20369; Q9H4X1

List of human protein-coding genes 7

List_of_human_protein-coding_genes_7

Marilyn Farquhar

American biologist (1928–2019)

Farquhar, M. G.; Arden, K. C. (2000). "Assignment of ankyrin repeat, family A (RFXANK-like) 2 (ANKRA2) to human chromosome 5q12-q13 by radiation hybrid mapping

Marilyn Farquhar

Marilyn_Farquhar

List of OMIM disorder codes

aciduria; 610377; MVK MHC class II deficiency, complementation group B; 209920; RFXANK Micochondrial phosphate carrier deficiency; 610773; SLC25A3 Microcephalic

List of OMIM disorder codes

List_of_OMIM_disorder_codes