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Gene Review:

NFRKB - nuclear factor related to kappaB binding...

Homo sapiens

Synonyms: DKFZp547B2013, DNA-binding protein R kappa-B, INO80 complex subunit G, INO80G, Nuclear factor related to kappa-B-binding protein

Adams, B.S. et al., Ounap, K. et al.

Ounap, Bartsch, Uibo, Laidre,

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Disease relevance of NFRKB

The NFRKB locus is in close proximity to the chromosomal breakpoint implicated in Ewing sarcoma, but it does not appear to span this region [1].

High impact information on NFRKB

Localization of the gene encoding R kappa B (NFRKB), a tissue-specific DNA binding protein, to chromosome 11q24-q25 [1].
Southern blot analysis of a human-mouse somatic cell hybrid panel and in situ hybridization using a fluorescent genomic R kappa B probe have allowed assignment of the R kappa B gene (NFRKB) to 11q24-q25 [1].
We are proposing that haploinsufficiency of the NFRKB gene on 11q24-q25 and/or the ETS-1 proto-oncogene on 11q24 may have caused or contributed to the immunodeficiency (decreased levels of B- and T-lymphocytes) in our patient [2].

References

Localization of the gene encoding R kappa B (NFRKB), a tissue-specific DNA binding protein, to chromosome 11q24-q25. Adams, B.S., Leung, K., Meltzer, P.S., Lewis, K.A., Wagner-McPherson, C., Evans, G.A., Nabel, G.J. Genomics (1992) [Pubmed]
Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter. Ounap, K., Bartsch, O., Uibo, O., Laidre, P. Am. J. Med. Genet. (2002) [Pubmed]

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NFRKB	Bos taurus
NFRKB	Canis lupus familiaris
si:dkey-92k1.11	Danio rerio
NFRKB	Gallus gallus
NFRKB	Macaca mulatta
Nfrkb	Mus musculus
NFRKB	Pan troglodytes
Nfrkb	Rattus norvegicus
nfrkb	Xenopus (Silurana) tropicalis

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