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RFX5 (NM_000449) Human Recombinant Protein

Selected Variant

PH30530E1

Size: 50 µg

Product Specifications

Background

A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920) . At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995) . RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]

Overview

Purified recombinant protein of Human regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 1, Leu391-Pro616, with N-terminal HIS tag, expressed in E. coli, 50ug

Synonyms

OTTHUMP00000082795; OTTHUMP00000196318; regulatory factor X, 5; regulatory factor X, 5 (influences HLA class II expression)

Gene ID

5993

UniProt

P48382

Accession Number mRNA

NM_000449

Chromosomal Location

1q21.3

Expression System

E. coli

Tag

N-His

Related Pathways

Antigen processing and presentation, Primary immunodeficiency

Field of Research

Antigen processing and presentation, Primary immunodeficiency

Concentration

>50 ug/mL as determined by microplate BCA method

Purity

> 80% as determined by SDS-PAGE and Coomassie blue staining

Form

Liquid

Buffer

25mM Tris, pH8.0, 150 mM NaCl, 10% glycerol

Function

Transcription Factors

Molecular Weight

23.1 kDa

Storage Conditions

Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

Symbol

RFX5

Species

Human

Protein ID

NP_000440

Gene ID URL

https://www.ncbi.nlm.nih.gov/gene/5993

Uniprot URL

https://www.uniprot.org/uniprot/P48382

Accession Number mRNA URL

https://www.ncbi.nlm.nih.gov/nuccore/NM_000449

Protein ID Link

https://www.ncbi.nlm.nih.gov/nuccore/NP_000440

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