Rabbit Anti-RFXANK antibody

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ANKRA1; Ankyrin repeat containing regulatory factor X associated protein; Ankyrin repeat family A protein 1; BLS; DNA-binding protein RFXANK; F14150_1; MGC138628; Regulatory factor X associated ankyrin containing protein; Regulatory factor X subun

Cat:

SL19843R

Species Reactivity：

(predicted: Human,Mouse,Rat,Pig,Cow,Horse,Sheep,Chimpanzee,)

Immunogen：

KLH conjugated synthetic peptide derived from human RFXANK:31-130/260

Format：

Liquid

Storage instructions：

Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

ELISA=1:5000-10000not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

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Unit:

Price: $228.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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Defects in RFXANK are a cause of bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]; also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency. BLS2 is a severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections.

Function:
Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator (MHC2TA). May regulate other genes in the cell. RFX binds the X1 box of MHSLCII promoters. Isoform RFX-B-delta5 is not involved in the positive regulation of MHC class II genes.

Subunit:
The RFX heterotetrameric complex consists of 2 molecules of RFX5 and one each of RFXAP and RFX-B/RFXANK; with each subunit representing a separate complementation group. RFX forms cooperative DNA binding complexes with X2BP and CSF/NF-Y. RFX associates with MHC2TA to form an active transcriptional complex.

Subcellular Location:
Nucleus.

Tissue Specificity:
Ubiquitous.

DISEASE:
Defects in RFXANK are a cause of bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]; also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency. BLS2 is a severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections.

Similarity:
Contains 5 ANK repeats.

SWISS:
O14593

Gene ID:
8625

Database links:
Entrez Gene: 8625 Human

Omim: 60640 Human

SwissProt: O14593 Human

Unigene: 153629 Human

Unigene: 296776 Human

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